Nf1 (neurofibromin 1) - Rat Genome Database

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Gene: Nf1 (neurofibromin 1) Mus musculus
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Symbol: Nf1
Name: neurofibromin 1
RGD ID: 10973
MGI Page MGI
Description: Enables GTPase activator activity. Involved in negative regulation of fibroblast proliferation and regulation of postsynapse organization. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; negative regulation of cell development; and nervous system development. Located in cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Used to study juvenile myelomonocytic leukemia; malignant peripheral nerve sheath tumor; and neurofibromatosis 1. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AW494271; Dsk; Dsk9; E030030H24Rik; Mhdads; Mhdadsk9; neurofibromatosis 1; neurofibromatosis-related protein NF-1; neurofibromin; Nf-; Nf-1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391179,223,541 - 79,472,435 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1179,230,519 - 79,472,438 (+)EnsemblGRCm39 Ensembl
GRCm381179,339,590 - 79,581,609 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1179,339,693 - 79,581,612 (+)EnsemblGRCm38mm10GRCm38
MGSCv371179,153,394 - 79,395,111 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361179,156,087 - 79,397,804 (+)NCBIMGSCv36mm8
Celera1189,016,599 - 89,214,295 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute monocytic leukemia  (ISO)
acute myeloid leukemia  (ISO)
adenoma  (ISO)
Aortic Coarctation  (ISO)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
B-cell acute lymphoblastic leukemia  (ISO)
Brain Neoplasms  (ISO)
Cafe au lait Spots, Multiple  (ISO)
Cafe-au-Lait Spots  (ISO)
centronuclear myopathy 5  (ISO)
cerebral palsy  (ISO)
colon cancer  (ISO)
colorectal carcinoma  (ISO)
craniopharyngioma  (ISO)
Developmental Disabilities  (ISO)
diffuse intrinsic pontine glioma  (ISO)
diffuse large B-cell lymphoma  (ISO)
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype  (ISO)
Ewing sarcoma  (ISO)
Febrile Seizures  (ISO)
Femoral Fractures  (IEP)
fetal akinesia deformation sequence syndrome 1  (ISO)
fibrosarcoma  (ISO)
ganglioglioma  (ISO)
genetic disease  (ISO)
glioblastoma  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
high grade glioma  (ISO)
IDH-mutant anaplastic astrocytoma  (ISO)
inguinal hernia  (ISO)
intellectual disability  (ISO)
juvenile myelomonocytic leukemia  (IAGP,ISO)
keratoconus  (ISO)
learning disability  (IMP,ISO)
liposarcoma  (ISO)
lung non-small cell carcinoma  (ISO)
malignant astrocytoma  (IMP,ISO)
melanoma  (ISO)
microcephaly  (ISO)
multiple myeloma  (ISO)
myeloproliferative neoplasm  (ISO)
Nerve Sheath Neoplasms  (ISO)
neurilemmoma  (ISO)
neurofibroma  (ISO)
neurofibroma of spinal cord  (ISO)
neurofibromatosis  (ISO)
neurofibromatosis 1  (IAGP,IMP,ISO)
neurofibromatosis-Noonan syndrome  (ISO)
optic nerve glioma  (ISO)
ovarian cancer  (ISO)
pheochromocytoma  (ISO)
Pigmented Nevus  (ISO)
pilocytic astrocytoma  (ISO)
plexiform neurofibroma  (ISO)
Pseudarthrosis  (ISO)
RASopathy  (ISO)
Retinal Neovascularization  (ISO)
retinoblastoma  (ISO)
rhabdomyosarcoma  (ISO)
sarcoma  (ISO)
sciatic neuropathy  (ISO)
spermatogenic failure 57  (ISO)
spinal neurofibromatosis  (ISO)
stomach cancer  (ISO)
strabismus  (ISO)
transient cerebral ischemia  (ISO)
urinary bladder cancer  (ISO)
Urinary Bladder Neoplasm  (ISO)
Wallerian Degeneration  (ISO)
Watson syndrome  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(S)-naringenin  (ISO)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
3-Nitrobenzanthrone  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (ISO)
afimoxifene  (ISO)
all-trans-retinoic acid  (ISO)
androgen antagonist  (ISO)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
aspartame  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butanal  (ISO)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
carbon nanotube  (ISO)
CGP 52608  (ISO)
chlordecone  (EXP)
choline  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (ISO)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
disodium selenite  (ISO)
dorsomorphin  (ISO)
entinostat  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
fluoxetine  (EXP)
folic acid  (EXP)
fulvestrant  (ISO)
gallic acid  (ISO)
geldanamycin  (ISO)
hexadecanoic acid  (ISO)
hydralazine  (ISO)
ivermectin  (ISO)
L-methionine  (EXP)
lead diacetate  (EXP)
linsidomine  (ISO)
linuron  (ISO)
mercury dibromide  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
methylmercury(1+)  (ISO)
monosodium L-glutamate  (EXP)
motexafin gadolinium  (ISO)
nickel atom  (ISO)
ochratoxin A  (ISO)
oxybenzone  (ISO)
p-chloromercuribenzoic acid  (ISO)
panobinostat  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PD 0325901  (ISO)
phenylmercury acetate  (ISO)
potassium chromate  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
quercetin  (ISO)
raloxifene  (ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
thimerosal  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
triptonide  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)
vorinostat  (ISO)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (IGI,IMP)
adrenal gland development  (IMP)
amygdala development  (IGI)
angiogenesis  (IGI)
apoptotic process  (IMP)
artery morphogenesis  (IMP)
astrocyte differentiation  (IMP)
brain development  (IMP)
camera-type eye morphogenesis  (IMP)
cell communication  (IMP)
cell migration  (IGI,IMP)
cell population proliferation  (IGI,IMP)
cellular response to dexamethasone stimulus  (ISO)
cellular response to heat  (IDA)
cellular response to nerve growth factor stimulus  (ISO)
cerebral cortex development  (IMP)
cognition  (ISO)
collagen fibril organization  (IMP)
endothelial cell proliferation  (IGI,IMP)
extracellular matrix organization  (IMP)
extrinsic apoptotic signaling pathway in absence of ligand  (IMP)
extrinsic apoptotic signaling pathway via death domain receptors  (IGI,IMP)
fibroblast proliferation  (IMP)
forebrain astrocyte development  (IMP)
forebrain morphogenesis  (IMP)
gamma-aminobutyric acid secretion, neurotransmission  (IGI)
glial cell proliferation  (IGI,IMP)
glutamate secretion, neurotransmission  (IGI)
hair follicle maturation  (IMP)
heart development  (IMP)
leukocyte apoptotic process  (IMP)
liver development  (IMP)
long-term synaptic potentiation  (IGI,IMP)
MAPK cascade  (IMP)
mast cell apoptotic process  (IGI)
mast cell proliferation  (IGI)
metanephros development  (IMP)
myelination in peripheral nervous system  (IMP)
myeloid cell apoptotic process  (IMP)
myeloid leukocyte migration  (IGI)
negative regulation of angiogenesis  (IGI)
negative regulation of astrocyte differentiation  (IMP)
negative regulation of cell migration  (ISO)
negative regulation of cell population proliferation  (IGI,IMP)
negative regulation of cell-matrix adhesion  (IGI)
negative regulation of endothelial cell proliferation  (IMP,ISO)
negative regulation of fibroblast proliferation  (IMP)
negative regulation of glial cell proliferation  (IGI,IMP)
negative regulation of leukocyte migration  (IGI)
negative regulation of MAP kinase activity  (IGI,IMP)
negative regulation of MAPK cascade  (IMP,ISO)
negative regulation of mast cell proliferation  (IGI)
negative regulation of neuroblast proliferation  (IMP)
negative regulation of neurotransmitter secretion  (IGI,IMP)
negative regulation of oligodendrocyte differentiation  (IMP)
negative regulation of osteoclast differentiation  (IGI)
negative regulation of protein import into nucleus  (IMP)
negative regulation of protein kinase activity  (IGI,IMP)
negative regulation of Rac protein signal transduction  (IGI)
negative regulation of Ras protein signal transduction  (IGI,IMP)
negative regulation of Schwann cell migration  (IGI,IMP)
negative regulation of Schwann cell proliferation  (IGI,IMP)
negative regulation of stem cell proliferation  (IGI)
negative regulation of vascular associated smooth muscle cell migration  (IGI)
neural tube development  (IGI)
neuroblast proliferation  (IMP)
neuron apoptotic process  (IGI,IMP)
neurotransmitter secretion  (IGI,IMP)
observational learning  (IGI)
oligodendrocyte differentiation  (IMP)
osteoblast differentiation  (IMP)
osteoclast differentiation  (IGI)
peripheral nervous system development  (IMP)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
pigmentation  (IGI,IMP)
positive regulation of adenylate cyclase activity  (IMP)
positive regulation of apoptotic process  (IMP)
positive regulation of endothelial cell proliferation  (IGI)
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IMP)
positive regulation of GTPase activity  (IEA,IMP,ISO)
positive regulation of leukocyte apoptotic process  (IMP)
positive regulation of mast cell apoptotic process  (IGI)
positive regulation of myeloid cell apoptotic process  (IMP)
positive regulation of neuron apoptotic process  (IGI,IMP)
positive regulation of neuron projection development  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (IGI)
postsynaptic signal transduction  (ISO)
protein import into nucleus  (IMP)
Rac protein signal transduction  (IGI)
Ras protein signal transduction  (IGI,IMP)
regulation of angiogenesis  (IMP,ISO)
regulation of blood vessel endothelial cell migration  (ISO)
regulation of bone resorption  (IMP)
regulation of cell population proliferation  (IGI)
regulation of cell-matrix adhesion  (IMP)
regulation of ERK1 and ERK2 cascade  (IGI,IMP)
regulation of gene expression  (IGI)
regulation of glial cell differentiation  (IMP)
regulation of long-term neuronal synaptic plasticity  (IGI,IMP)
regulation of long-term synaptic potentiation  (IGI)
regulation of MAPK cascade  (IGI)
regulation of modification of postsynaptic structure  (ISO)
regulation of neuron differentiation  (ISO)
regulation of postsynapse organization  (IDA,IMP)
regulation of synaptic transmission, GABAergic  (IGI)
response to hypoxia  (IMP)
Schwann cell development  (IMP)
Schwann cell differentiation  (ISO)
Schwann cell migration  (IGI,IMP)
Schwann cell proliferation  (IGI,IMP)
skeletal muscle tissue development  (IMP)
smooth muscle tissue development  (IMP)
spinal cord development  (IMP)
stem cell proliferation  (IGI)
sympathetic nervous system development  (IMP)
vascular associated smooth muscle cell migration  (IGI)
vascular associated smooth muscle cell proliferation  (IGI)
visual learning  (IGI,IMP)
wound healing  (IMP)

Cellular Component
axon  (IEA,ISO)
cytoplasm  (IDA,ISO)
dendrite  (ISO)
glutamatergic synapse  (IDA,IMP,ISO)
membrane  (IEA)
nucleolus  (IEA)
nucleoplasm  (IEA,ISO)
nucleus  (ISO)
plasma membrane  (ISO)
presynapse  (IEA)
protein-containing complex  (ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal adrenal cortex morphology  (IAGP)
abnormal adrenal gland morphology  (IAGP)
abnormal adrenergic chromaffin cell morphology  (IAGP)
abnormal angiogenesis  (IAGP)
abnormal astrocyte morphology  (IAGP)
abnormal astrocyte physiology  (IAGP)
abnormal atrioventricular cushion morphology  (IAGP)
abnormal behavior  (IAGP)
abnormal bone healing  (IAGP)
abnormal bone marrow cell morphology/development  (IAGP)
abnormal bone marrow morphology  (IAGP)
abnormal brain development  (IAGP)
abnormal brain morphology  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal CNS glial cell morphology  (IAGP)
abnormal common myeloid progenitor cell morphology  (IAGP)
abnormal definitive hematopoiesis  (IAGP)
abnormal dendrite morphology  (IAGP)
abnormal discrimination learning  (IAGP)
abnormal dorsal root ganglion morphology  (IAGP)
abnormal embryo turning  (IAGP)
abnormal embryonic tissue morphology  (IAGP)
abnormal endochondral bone ossification  (IAGP)
abnormal enzyme/coenzyme activity  (IAGP)
abnormal enzyme/coenzyme level  (IAGP)
abnormal extraembryonic tissue morphology  (IAGP)
abnormal fetal atrioventricular canal morphology  (IAGP)
abnormal gait  (IAGP)
abnormal hair cycle anagen phase  (IAGP)
abnormal heart development  (IAGP)
abnormal heart morphology  (IAGP)
abnormal heart valve morphology  (IAGP)
abnormal hematopoietic cell number  (IAGP)
abnormal hematopoietic stem cell morphology  (IAGP)
abnormal hemopoiesis  (IAGP)
abnormal hindbrain morphology  (IAGP)
abnormal hippocampus morphology  (IAGP)
abnormal hormone level  (IAGP)
abnormal hypothalamus physiology  (IAGP)
abnormal learning/memory/conditioning  (IAGP)
abnormal liver morphology  (IAGP)
abnormal lung morphology  (IAGP)
abnormal lymphatic vessel morphology  (IAGP)
abnormal mast cell physiology  (IAGP)
abnormal melanocyte morphology  (IAGP)
abnormal metanephros morphology  (IAGP)
abnormal microglial cell morphology  (IAGP)
abnormal mitral valve cusp morphology  (IAGP)
abnormal muscle development  (IAGP)
abnormal muscle fiber morphology  (IAGP)
abnormal muscle morphology  (IAGP)
abnormal muscle physiology  (IAGP)
abnormal myelination  (IAGP)
abnormal myeloid leukocyte morphology  (IAGP)
abnormal myelopoiesis  (IAGP)
abnormal myoblast differentiation  (IAGP)
abnormal myocardium layer morphology  (IAGP)
abnormal myogenesis  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal nervous system physiology  (IAGP)
abnormal neural crest cell morphology  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal neuron proliferation  (IAGP)
abnormal neuronal precursor proliferation  (IAGP)
abnormal optic chiasm morphology  (IAGP)
abnormal optic nerve morphology  (IAGP)
abnormal osteoblast cell number  (IAGP)
abnormal osteoid morphology  (IAGP)
abnormal pharyngeal arch morphology  (IAGP)
abnormal pituitary gland development  (IAGP)
abnormal pituitary gland morphology  (IAGP)
abnormal pituitary gland physiology  (IAGP)
abnormal secondary somatosensory cortex morphology  (IAGP)
abnormal seminiferous tubule epithelium morphology  (IAGP)
abnormal Sertoli cell barrier morphology  (IAGP)
abnormal somatic nervous system morphology  (IAGP)
abnormal somatic sensory system morphology  (IAGP)
abnormal spatial learning  (IAGP)
abnormal spermatid morphology  (IAGP)
abnormal spermatogenesis  (IAGP)
abnormal spermiation  (IAGP)
abnormal spinal nerve morphology  (IAGP)
abnormal spleen morphology  (IAGP)
abnormal sympathetic ganglion morphology  (IAGP)
abnormal tongue morphology  (IAGP)
abnormal vein morphology  (IAGP)
abnormal voluntary movement  (IAGP)
absent forebrain  (IAGP)
absent limb buds  (IAGP)
absent midbrain  (IAGP)
absent otic vesicle  (IAGP)
absent spleen germinal center  (IAGP)
adrenal medulla hyperplasia  (IAGP)
anemia  (IAGP)
astrocytosis  (IAGP)
ataxia  (IAGP)
axon degeneration  (IAGP)
blood vessel congestion  (IAGP)
decreased B cell number  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone marrow cell number  (IAGP)
decreased bone mineral density  (IAGP)
decreased cell proliferation  (IAGP)
decreased circulating alanine transaminase level  (IEA)
decreased circulating aspartate transaminase level  (IEA)
decreased circulating growth hormone level  (IAGP)
decreased eye pigmentation  (IAGP)
decreased forebrain size  (IAGP)
decreased hemoglobin content  (IAGP)
decreased lactate dehydrogenase level  (IEA)
decreased Leydig cell number  (IAGP)
decreased litter size  (IAGP)
decreased lymphocyte cell number  (IAGP)
decreased metastatic potential  (IAGP)
decreased muscle weight  (IAGP)
decreased renal glomerulus number  (IAGP)
decreased sarcoma incidence  (IAGP)
decreased skeletal muscle fiber number  (IAGP)
decreased skeletal muscle mass  (IAGP)
decreased T cell number  (IAGP)
decreased tumor incidence  (IAGP)
decreased tumor latency  (IAGP)
decreased tumor-free survival time  (IAGP)
dehydration  (IAGP)
delayed hepatic development  (IAGP)
delayed kidney development  (IAGP)
delayed muscle development  (IAGP)
dermatitis  (IAGP)
disheveled coat  (IAGP)
disorganized myocardium  (IAGP)
distended pericardium  (IAGP)
double outlet right ventricle  (IAGP)
edema  (IAGP)
embryonic growth arrest  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
enlarged adrenal glands  (IAGP)
enlarged allantois  (IAGP)
enlarged chest  (IAGP)
enlarged heart  (IAGP)
enlarged liver  (IAGP)
enlarged sperm head  (IAGP)
enlarged spleen  (IAGP)
enlarged testis  (IAGP)
excessive folding of visceral yolk sac  (IAGP)
exencephaly  (IAGP)
failure of somite differentiation  (IAGP)
focal hepatic necrosis  (IAGP)
fragile skeleton  (IAGP)
globular heart  (IAGP)
heart hypoplasia  (IAGP)
hemorrhage  (IAGP)
hindlimb paralysis  (IAGP)
hunched posture  (IAGP)
hydrops fetalis  (IAGP)
hypermyelination  (IAGP)
impaired coordination  (IAGP)
increased adrenal gland tumor incidence  (IAGP)
increased apoptosis  (IAGP)
increased astrocytoma incidence  (IAGP)
increased atrioventricular cushion size  (IAGP)
increased body weight  (IEA)
increased brain tumor incidence  (IAGP)
increased carcinoma incidence  (IAGP)
increased compact bone volume  (IAGP)
increased cranial neural crest cell apoptosis  (IAGP)
increased ear pigmentation  (IAGP)
increased fibrohistocytoma incidence  (IAGP)
increased fibrosarcoma incidence  (IAGP)
increased foot pad pigmentation  (IAGP)
increased ganglioneuroma incidence  (IAGP)
increased gangliosarcoma incidence  (IAGP)
increased glioblastoma incidence  (IAGP)
increased glioma incidence  (IAGP)
increased granulocyte number  (IAGP)
increased hemangiosarcoma incidence  (IAGP)
increased hepatocellular carcinoma incidence  (IAGP)
increased hepatoma incidence  (IAGP)
increased hindbrain apoptosis  (IAGP)
increased histiocytic sarcoma incidence  (IAGP)
increased intestinal adenoma incidence  (IAGP)
increased leiomyosarcoma incidence  (IAGP)
increased leukemia incidence  (IAGP)
increased leukocyte cell number  (IAGP)
increased liver weight  (IAGP)
increased lung adenocarcinoma incidence  (IAGP)
increased lymphocyte cell number  (IAGP)
increased lymphoma incidence  (IAGP)
increased macrophage cell number  (IAGP)
increased malignant triton tumor incidence  (IAGP)
increased malignant tumor incidence  (IAGP)
increased mast cell degranulation  (IAGP)
increased metastatic potential  (IAGP)
increased monocyte cell number  (IAGP)
increased myoblast proliferation  (IAGP)
increased neuroblastoma incidence  (IAGP)
increased neurofibroma incidence  (IAGP)
increased neurofibrosarcoma incidence  (IAGP)
increased neutrophil cell number  (IAGP)
increased oligodendrocyte number  (IAGP)
increased optic chiasm size  (IAGP)
increased osteoclast cell number  (IAGP)
increased osteoid thickness  (IAGP)
increased pheochromocytoma incidence  (IAGP)
increased rhabdomyosarcoma incidence  (IAGP)
increased sarcoma incidence  (IAGP)
increased Schwannoma incidence  (IAGP)
increased sperm number  (IAGP)
increased spleen weight  (IAGP)
increased startle reflex  (IAGP)
increased T cell acute lymphoblastic leukemia incidence  (IAGP)
increased tail pigmentation  (IAGP)
increased tumor incidence  (IAGP)
lethality throughout fetal growth and development, complete penetrance  (IAGP)
lethargy  (IAGP)
liver hemorrhage  (IAGP)
liver hypoplasia  (IAGP)
megacephaly  (IAGP)
microphthalmia  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
pale liver  (IAGP)
pallor  (IAGP)
paralysis  (IAGP)
paravertebral ganglia hyperplasia  (IAGP)
pericardial effusion  (IAGP)
persistent truncus arteriosus  (IAGP)
pleural effusion  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
prenatal lethality, complete penetrance  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
prevertebral ganglia hyperplasia  (IAGP)
preweaning lethality, complete penetrance  (IEA)
reduced male fertility  (IAGP)
respiratory failure  (IAGP)
retina ganglion cell degeneration  (IAGP)
seizures  (IAGP)
seminiferous tubule degeneration  (IAGP)
short limbs  (IAGP)
skeletal muscle fibrosis  (IAGP)
skeletal muscle hypoplasia  (IAGP)
small adenohypophysis  (IAGP)
small pituitary gland  (IAGP)
spleen fibrosis  (IAGP)
spleen hyperplasia  (IAGP)
thin adrenal cortex  (IAGP)
thin cerebral cortex  (IAGP)
thin myocardium  (IAGP)
thin myocardium compact layer  (IAGP)
thrombocytosis  (IAGP)
unidirectional circling  (IAGP)
ventricular septal defect  (IAGP)
weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. Bianchessi D, etal., Genes (Basel). 2020 Jun 19;11(6). pii: genes11060671. doi: 10.3390/genes11060671.
2. Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia. Boudry-Labis E, etal., Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5.
3. NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer. Cacev T, etal., Gut. 2005 Aug;54(8):1129-35. doi: 10.1136/gut.2004.053348. Epub 2005 Apr 19.
4. Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Costa RM, etal., Nat Genet 2001 Apr;27(4):399-405.
5. Neurofibromin Expression is Associated with Aggressive Disease and Poor Outcome in Colorectal Carcinoma. Elzagheid A, etal., Anticancer Res. 2016 Oct;36(10):5301-5306. doi: 10.21873/anticanres.11102.
6. Increased expression of the neurofibromatosis 1 (NF1) gene product, neurofibromin, in astrocytes in response to cerebral ischemia. Giordano MJ, etal., J Neurosci Res. 1996 Jan 15;43(2):246-53.
7. Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas. Gutmann DH, etal., Neuropathol Appl Neurobiol. 2000 Aug;26(4):361-7.
8. The prognostic significance of bone marrow levels of neurofibromatosis-1 protein and ras oncogene mutations in patients with acute myeloid leukemia and myelodysplastic syndrome. Lu D, etal., Cancer. 2003 Jan 15;97(2):441-9.
9. Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. Marui T, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Nov 15;131B(1):43-7.
10. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
11. MGDs mouse GO annotations MGD data from the GO Consortium
12. MGD IEA MGD IEA
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line. Perrin GQ, etal., J Neurosci Res. 2007 May 1;85(6):1347-57. doi: 10.1002/jnr.21226.
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. LncRNA H19 serves as a ceRNA and participates in non-small cell lung cancer development by regulating microRNA-107. Qian B, etal., Eur Rev Med Pharmacol Sci. 2018 Sep;22(18):5946-5953. doi: 10.26355/eurrev_201809_15925.
18. Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effects. Reilly KM, etal., Nat Genet 2000 Sep;26(1):109-13.
19. Mouse MP Annotation Import Pipeline RGD automated import pipeline
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. Sharif S, etal., J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28.
23. Multiple mouse chromosomal loci for dynein-based motility. Vaughan KT, etal., Genomics 1996 Aug 15;36(1):29-38.
24. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. Venturin M, etal., Ann Hum Genet. 2005 Sep;69(Pt 5):508-16.
25. Clinicopathologic implications of NF1 gene alterations in diffuse gliomas. Vizcaíno MA, etal., Hum Pathol. 2015 Sep;46(9):1323-30. doi: 10.1016/j.humpath.2015.05.014. Epub 2015 May 30.
26. Mouse tumor model for neurofibromatosis type 1. Vogel KS, etal., Science 1999 Dec 10;286(5447):2176-9.
27. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Wallace MR, etal., Science. 1990 Jul 13;249(4965):181-6.
28. Regulation of neurofibromin expression in rat sciatic nerve and cultured Schwann cells. Wrabetz L, etal., Glia. 1995 Sep;15(1):22-32.
Additional References at PubMed
PMID:1946382   PMID:2169593   PMID:3925999   PMID:7474134   PMID:7477259   PMID:7490078   PMID:7557995   PMID:7568895   PMID:7594550   PMID:7609078   PMID:7626882   PMID:7633452  
PMID:7650394   PMID:7671302   PMID:7920653   PMID:7926784   PMID:7958951   PMID:7959746   PMID:7977656   PMID:8026534   PMID:8036002   PMID:8306889   PMID:8314000   PMID:8353485  
PMID:8563750   PMID:8566965   PMID:8585954   PMID:8622964   PMID:8808709   PMID:8884266   PMID:8889548   PMID:8889551   PMID:8982467   PMID:9001241   PMID:9054942   PMID:9177778  
PMID:9214616   PMID:9307024   PMID:9405660   PMID:9434953   PMID:9434955   PMID:9524273   PMID:9608530   PMID:9778496   PMID:9796699   PMID:9804998   PMID:9852579   PMID:9878702  
PMID:9917000   PMID:10021345   PMID:10339466   PMID:10349636   PMID:10383727   PMID:10392751   PMID:10419687   PMID:10442636   PMID:10498620   PMID:10557097   PMID:10586246   PMID:10591652  
PMID:10594763   PMID:10620616   PMID:10678181   PMID:10725249   PMID:10844550   PMID:10845775   PMID:10862698   PMID:10945472   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11237520  
PMID:11246230   PMID:11297510   PMID:11306621   PMID:11401406   PMID:11407944   PMID:11425624   PMID:11435472   PMID:11544276   PMID:11751683   PMID:11788835   PMID:11793011   PMID:11858825  
PMID:11988578   PMID:12077339   PMID:12082543   PMID:12118376   PMID:12154062   PMID:12386807   PMID:12393498   PMID:12393709   PMID:12409258   PMID:12417644   PMID:12427839   PMID:12466851  
PMID:12469121   PMID:12520002   PMID:12533510   PMID:12573431   PMID:12600938   PMID:12696059   PMID:12881715   PMID:12904481   PMID:14502561   PMID:14523097   PMID:14610273   PMID:14679180  
PMID:14695164   PMID:14724565   PMID:14739366   PMID:14982883   PMID:15039234   PMID:15125795   PMID:15133494   PMID:15319471   PMID:15371411   PMID:15622533   PMID:15652750   PMID:15665300  
PMID:15778374   PMID:15804420   PMID:15805275   PMID:15886874   PMID:15937108   PMID:15944386   PMID:15999204   PMID:16093333   PMID:16098465   PMID:16141072   PMID:16141073   PMID:16180234  
PMID:16226708   PMID:16267007   PMID:16271875   PMID:16288202   PMID:16298082   PMID:16314489   PMID:16397217   PMID:16405917   PMID:16512683   PMID:16525748   PMID:16602821   PMID:16644864  
PMID:16648142   PMID:16651634   PMID:16835260   PMID:16893911   PMID:16906226   PMID:16944949   PMID:16959763   PMID:17053831   PMID:17090653   PMID:17096025   PMID:17114649   PMID:17141628  
PMID:17208258   PMID:17216419   PMID:17236191   PMID:17241271   PMID:17274974   PMID:17277161   PMID:17314307   PMID:17317783   PMID:17348023   PMID:17383899   PMID:17510408   PMID:17562863  
PMID:17582688   PMID:17700520   PMID:17875698   PMID:17967772   PMID:18089636   PMID:18089649   PMID:18164202   PMID:18213578   PMID:18218617   PMID:18242511   PMID:18242512   PMID:18242513  
PMID:18272679   PMID:18316617   PMID:18329113   PMID:18335562   PMID:18371380   PMID:18383150   PMID:18442999   PMID:18451155   PMID:18477655   PMID:18614404   PMID:18614544   PMID:18768391  
PMID:18948576   PMID:18984156   PMID:18984165   PMID:19056885   PMID:19074905   PMID:19076778   PMID:19111880   PMID:19191334   PMID:19228926   PMID:19243017   PMID:19247213   PMID:19347398  
PMID:19414599   PMID:19427294   PMID:19475561   PMID:19477430   PMID:19479903   PMID:19525901   PMID:19573811   PMID:19574548   PMID:19661150   PMID:19710506   PMID:19727076   PMID:19757398  
PMID:19846776   PMID:19892785   PMID:20124472   PMID:20154697   PMID:20160346   PMID:20200958   PMID:20209053   PMID:20233966   PMID:20233971   PMID:20307317   PMID:20410111   PMID:20551058  
PMID:20571392   PMID:20600672   PMID:20624961   PMID:20661302   PMID:20826448   PMID:20876733   PMID:21037083   PMID:21170735   PMID:21199799   PMID:21233129   PMID:21267068   PMID:21270437  
PMID:21319287   PMID:21352477   PMID:21439418   PMID:21467166   PMID:21478499   PMID:21501659   PMID:21551249   PMID:21551250   PMID:21555464   PMID:21642990   PMID:21677750   PMID:21681782  
PMID:21737130   PMID:21748792   PMID:21757497   PMID:21896734   PMID:21903164   PMID:21907929   PMID:21931722   PMID:21956219   PMID:21963652   PMID:21980365   PMID:22105171   PMID:22118770  
PMID:22160242   PMID:22234937   PMID:22260870   PMID:22307743   PMID:22340596   PMID:22399775   PMID:22535408   PMID:22700876   PMID:22751498   PMID:22789544   PMID:22810304   PMID:22851646  
PMID:22854781   PMID:22868293   PMID:22901811   PMID:22911456   PMID:22918885   PMID:22932696   PMID:22945628   PMID:22983217   PMID:23045694   PMID:23056445   PMID:23071067   PMID:23099891  
PMID:23144792   PMID:23171796   PMID:23197650   PMID:23221337   PMID:23221339   PMID:23221341   PMID:23318430   PMID:23318450   PMID:23412344   PMID:23434321   PMID:23522726   PMID:23528211  
PMID:23555837   PMID:23571107   PMID:23578956   PMID:23624918   PMID:23703870   PMID:23729642   PMID:23762458   PMID:23858101   PMID:23863460   PMID:23869022   PMID:24035394   PMID:24067356  
PMID:24075988   PMID:24163128   PMID:24211110   PMID:24232507   PMID:24370551   PMID:24465906   PMID:24535670   PMID:24573885   PMID:24710274   PMID:24755485   PMID:24913553   PMID:24947449  
PMID:24952961   PMID:24997609   PMID:25043591   PMID:25070947   PMID:25083989   PMID:25119042   PMID:25184332   PMID:25242307   PMID:25246427   PMID:25246577   PMID:25340873   PMID:25367036  
PMID:25368158   PMID:25381154   PMID:25446898   PMID:25474689   PMID:25483400   PMID:25535838   PMID:25616962   PMID:25772366   PMID:25775093   PMID:25786243   PMID:25788518   PMID:25917016  
PMID:26000738   PMID:26002977   PMID:26039236   PMID:26067104   PMID:26123588   PMID:26146073   PMID:26190969   PMID:26272820   PMID:26314219   PMID:26412325   PMID:26460546   PMID:26461091  
PMID:26732977   PMID:26740548   PMID:26764354   PMID:26859681   PMID:26908603   PMID:26930384   PMID:26965285   PMID:27144312   PMID:27159396   PMID:27266634   PMID:27283753   PMID:27333032  
PMID:27340174   PMID:27482814   PMID:27773571   PMID:27791021   PMID:27889578   PMID:27923908   PMID:28039362   PMID:28057529   PMID:28185240   PMID:28254468   PMID:28256556   PMID:28368417  
PMID:28423318   PMID:28425622   PMID:28525381   PMID:28608929   PMID:28629962   PMID:28637693   PMID:28646022   PMID:28671696   PMID:28673309   PMID:28706196   PMID:28804759   PMID:28836293  
PMID:28934393   PMID:29032173   PMID:29139538   PMID:29162814   PMID:29228356   PMID:29392777   PMID:29522274   PMID:29596064   PMID:29632086   PMID:29720369   PMID:29787563   PMID:30226831  
PMID:30337665   PMID:30348676   PMID:30348677   PMID:30478082   PMID:30479396   PMID:30542122   PMID:30571760   PMID:30580567   PMID:30778149   PMID:30894605   PMID:30973865   PMID:31032403  
PMID:31040226   PMID:31091306   PMID:31107888   PMID:31128207   PMID:31234911   PMID:31257073   PMID:31321879   PMID:31431463   PMID:31445228   PMID:31545171   PMID:31600280   PMID:31664505  
PMID:31982409   PMID:32123116   PMID:32243842   PMID:32325033   PMID:32358581   PMID:32471868   PMID:32527982   PMID:32561725   PMID:32581705   PMID:32610136   PMID:32736084   PMID:32810864  
PMID:32816910   PMID:32839340   PMID:32960816   PMID:33177525   PMID:33293695   PMID:33323119   PMID:33531372   PMID:33730566   PMID:33743598   PMID:34040258   PMID:34399888   PMID:34428430  
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PMID:36417873   PMID:36592273   PMID:37101298   PMID:37140985   PMID:37142655   PMID:37207276   PMID:37254876   PMID:37616542   PMID:37702066   PMID:37990867   PMID:38127282   PMID:38143008  
PMID:38258905   PMID:38308315   PMID:38355793   PMID:38360927   PMID:38458648   PMID:38607967   PMID:38685949   PMID:38816530   PMID:38900740   PMID:38913608   PMID:38924432   PMID:39106942  
PMID:39215899  


Genomics

Comparative Map Data
Nf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391179,223,541 - 79,472,435 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1179,230,519 - 79,472,438 (+)EnsemblGRCm39 Ensembl
GRCm381179,339,590 - 79,581,609 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1179,339,693 - 79,581,612 (+)EnsemblGRCm38mm10GRCm38
MGSCv371179,153,394 - 79,395,111 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361179,156,087 - 79,397,804 (+)NCBIMGSCv36mm8
Celera1189,016,599 - 89,214,295 (+)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.74NCBI
NF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381731,094,927 - 31,377,677 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1731,094,927 - 31,382,116 (+)EnsemblGRCh38hg38GRCh38
GRCh371729,421,945 - 29,704,695 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361726,446,121 - 26,728,821 (+)NCBINCBI36Build 36hg18NCBI36
Build 341726,446,242 - 26,725,590NCBI
Celera1726,342,778 - 26,625,011 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1725,632,559 - 25,915,183 (+)NCBIHuRef
CHM1_11729,485,166 - 29,767,533 (+)NCBICHM1_1
T2T-CHM13v2.01732,040,661 - 32,323,039 (+)NCBIT2T-CHM13v2.0
Nf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81064,803,986 - 65,037,086 (+)NCBIGRCr8
mRatBN7.21064,306,027 - 64,539,112 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1064,306,301 - 64,536,658 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1068,933,130 - 69,162,873 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01068,438,497 - 68,668,253 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01063,907,885 - 64,137,796 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01066,732,460 - 66,928,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1066,690,133 - 66,928,903 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01064,826,693 - 64,916,699 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01064,719,521 - 64,758,677 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41065,574,833 - 65,766,305 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11065,545,464 - 65,779,928 (+)NCBI
Celera1063,277,856 - 63,507,181 (+)NCBICelera
Cytogenetic Map10q25NCBI
Nf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554816,145,855 - 6,404,179 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554816,145,855 - 6,404,179 (+)NCBIChiLan1.0ChiLan1.0
NF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21933,107,932 - 33,386,684 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11734,986,857 - 35,265,533 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01725,425,081 - 25,703,689 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11726,160,857 - 26,439,295 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1726,160,855 - 26,439,295 (-)Ensemblpanpan1.1panPan2
NF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1941,467,460 - 41,679,388 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl941,469,416 - 41,679,382 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha940,629,334 - 40,903,263 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0942,288,289 - 42,562,339 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1941,071,709 - 41,345,537 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0941,366,542 - 41,640,551 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0941,442,649 - 41,716,759 (-)NCBIUU_Cfam_GSD_1.0
Nf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560240,516,678 - 40,718,544 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365383,398,222 - 3,595,261 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365383,394,623 - 3,596,025 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1243,489,813 - 43,753,969 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11243,487,098 - 43,754,205 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21245,314,405 - 45,511,909 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11624,550,983 - 24,836,311 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1624,550,977 - 24,836,307 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660755,239,619 - 5,527,625 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248753,636,924 - 3,956,576 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248753,636,762 - 3,959,991 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Nf1
7476 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1859
Count of miRNA genes:660
Interacting mature miRNAs:790
Transcripts:ENSMUST00000071325, ENSMUST00000108251, ENSMUST00000122917, ENSMUST00000130979, ENSMUST00000131800, ENSMUST00000137997, ENSMUST00000145839, ENSMUST00000146699
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
27226783Tibl5_mtibia length 5, 5 week (mouse)1168190826101890826Mouse
1300628Lgth6_mbody length 6 (mouse)Not determined1166733420100733652Mouse
4141367Inf1_macute ozone induced inflammation (mouse)Not determined44630038113058009Mouse
4141365Ltxs3_mlethal factor toxin susceptibility 3 (mouse)Not determined117757387380746358Mouse
1558812Rafar_mretinoic acid induced forelimb autopod reduction (mouse)Not determined1170691198104691366Mouse
1300765Bbaa4_mB.burgdorferi-associated arthritis 4 (mouse)Not determined114618516780185262Mouse
1301404Sbmd4_mspinal bone mineral density 4 (mouse)Not determined1172019649106019734Mouse
1302021Nidd1n_mnon-insulin-dependent diabetes mellitus 1 in NSY (mouse)Not determined114516587379978324Mouse
4142121Tmc1m2_mTmc1 modifier 2 (mouse)Not determined1156864027114157957Mouse
1301640Lore4_mloss of righting induced by ethanol 4 (mouse)Not determined1179156009107616472Mouse
4141982Skts-fp2_mskin tumor susceptibility in FVB and PWK 2 (mouse)Not determined5871926685066529Mouse
1357878Mastr_mmodifier of astrocytoma (mouse)Not determined114570858189818733Mouse
1301681Sle13_msystematic lupus erythematosus susceptibility 13 (mouse)Not determined1170691198104691366Mouse
1300784Prdt3_mprion disease incubation time 3 (mouse)Not determined1166733420100733652Mouse
4141339Nilac2_mnicotine induced locomotor activity 2 (mouse)Not determined1170691198104691366Mouse
10413882Moe1_mmodifier of epilepsy 1 (mouse)1177770978111771099Mouse
11039501Ltpr6a_mLeishmania tropica response 6a (mouse)116483033698830473Mouse
13208559Wght10_mweight 10 (mouse)11395000088890826Mouse
13524840Ppiq9a_mprepulse inhibition QTL 9a (mouse)115249438586494385Mouse
11039502Ltpr6b_mLeishmania tropica response 6b (mouse)116483033698830473Mouse
13208558Lgth12_mbody length 12 (mouse)11395000094890826Mouse
10045616Heal25_mwound healing/regeneration 25 (mouse)Not determined1177437183111437322Mouse
1300664Etohcta9_methanol conditioned taste aversion 9 (mouse)Not determined115775466091754758Mouse
1301310Tmevd5_mTheiler's murine encephalomyelitis virus induced demyelinating disease susceptibility 5 (mouse)Not determined1172726125106726289Mouse
1300924Ity2_mimmunity to S. typhimurium 2 (mouse)Not determined15850803087695238Mouse
13208569Bmiq10_mbody mass index QTL 10 (mouse)113589082784890826Mouse
11039515Ltpr6_mLeishmania tropica response 6 (mouse)116483033698830473Mouse
4142348Pstc2_mperiosteal circumference 2 (mouse)Not determined1172818615106818733Mouse
1300774Pgia7_mproteoglycan induced arthritis 7 (mouse)Not determined115339058887390737Mouse
1301414Heal10_mwound healing/regeneration 10 (mouse)Not determined1177437183111437322Mouse
1300651Pcyts3_mplasmacytoma susceptibility 3 (mouse)Not determined1170691198104691366Mouse
4141830Pregq1_mpregnancy QTL 1 (mouse)Not determined115412675283733652Mouse
1301546Pcir2_mperiosteal circumference 2 (mouse)Not determined1166733420100733652Mouse
1300905Scc6_mcolon tumor susceptibility 6 (mouse)Not determined11688027789019734Mouse
14746970Manh71_mmandible shape 71 (mouse)1179416257113416257Mouse
39128214Lwq20_mliver weight QTL 20 (mouse)1112268637118022724Mouse
1301328Mol4_mmodifier of LPS-response 4 (mouse)Not determined113628257783481356Mouse
10043866Adip19_madiposity 19 (mouse)Not determined1172818615106818733Mouse
1301078Alcp2_malcohol preference locus 2 (mouse)Not determined117220979684731462Mouse
10412246Dfs2_mdental fluorosis suseptibility 2 (mouse)Not determined112180736495881231Mouse
11038695Par8_mpulmonary adenoma resistance 8 (mouse)1177063779111063918Mouse
1357766Si5lq6_mserum IGFBP-5 level QTL 6 (mouse)Not determined1166733420100733652Mouse
4142316Ity2b_mimmunity to S. typhimurium 2b (mouse)Not determined116707819179813912Mouse
1301319Dautb4_mdopamine uptake transporter binding 4 (mouse)Not determined116215600596156153Mouse
1301830Ssta4_msusceptibility to Salmonella typhimurium antigens 4 (mouse)Not determined115007819184078411Mouse
1301833Tbbmd5_mtotal body bone mineral density 5 (mouse)Not determined1166733420100733652Mouse
4141012Femwf6_mfemur work to failure 6 (mouse)Not determined66733420100733652Mouse
1301987Pid3_mprior incubation determinant 3 (mouse)Not determined116168682088699728Mouse
27226730Tibmd1_mtibia midshaft diameter 1, 5 week (mouse)1162590826109390826Mouse
1301988Bmd11_mbone mineral density 11 (mouse)Not determined114631940780319522Mouse
4141894Nidd6k_mNidd6 on KK-A (mouse)Not determined1912420496897826Mouse
1301999Lmr15_mleishmaniasis resistance 15 (mouse)Not determined116331940781830473Mouse
10044004Stzid3_mstreptozotocin induced diabetes susceptibility 3 (mouse)Not determined116331940794063918Mouse
12903994Opfaq3_mopen field activity QTL 3 (mouse)117373754182069425Mouse
1302124Eae7_msusceptibility to experimental allergic encephalomyelitis 7 (mouse)Not determined117757387399377820Mouse

Markers in Region
AU040972  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,482,137 - 79,482,242UniSTSGRCm38
MGSCv371179,295,639 - 79,295,744UniSTSGRCm37
Celera1189,114,837 - 89,114,942UniSTS
Cytogenetic Map11B4-5UniSTS
Whitehead/MRC_RH111002.87UniSTS
AW491894  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,527,442 - 79,527,571UniSTSGRCm38
MGSCv371179,340,944 - 79,341,073UniSTSGRCm37
Celera1189,160,124 - 89,160,253UniSTS
Cytogenetic Map11B5UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.13UniSTS
Whitehead/MRC_RH111005.69UniSTS
AW494271  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,580,423 - 79,580,546UniSTSGRCm38
MGSCv371179,393,925 - 79,394,048UniSTSGRCm37
Celera1189,213,109 - 89,213,232UniSTS
Cytogenetic Map11B4-5UniSTS
Whitehead/MRC_RH111007.16UniSTS
Omg  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,501,742 - 79,501,980UniSTSGRCm38
MGSCv371179,315,244 - 79,315,482UniSTSGRCm37
Celera1189,134,424 - 89,134,662UniSTS
Cytogenetic Map11B5UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.07UniSTS
AU040954  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,482,004 - 79,482,242UniSTSGRCm38
MGSCv371179,295,506 - 79,295,744UniSTSGRCm37
Celera1189,114,704 - 89,114,942UniSTS
Cytogenetic Map11B4-5UniSTS
Whitehead/MRC_RH111003.85UniSTS
UniSTS:236652  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,481,919 - 79,482,191UniSTSGRCm38
MGSCv371179,295,421 - 79,295,693UniSTSGRCm37
Celera1189,114,619 - 89,114,891UniSTS
Cytogenetic Map11B4-5UniSTS
Nf1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv371179,372,906 - 79,373,046UniSTSGRCm37
Celera1189,192,086 - 89,192,226UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.06UniSTS
PMC55792P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,548,740 - 79,549,449UniSTSGRCm38
MGSCv371179,362,242 - 79,362,951UniSTSGRCm37
Celera1189,181,422 - 89,182,131UniSTS
Cytogenetic Map11B4-5UniSTS
D11Bhm104  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,359,961 - 79,360,046UniSTSGRCm38
MGSCv371179,173,463 - 79,173,548UniSTSGRCm37
Celera1188,992,165 - 88,992,250UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.07UniSTS
D11Bhm106  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,443,852 - 79,443,940UniSTSGRCm38
MGSCv371179,257,354 - 79,257,442UniSTSGRCm37
Celera1189,076,259 - 89,076,347UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.1UniSTS
D11Bhm105  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,403,776 - 79,403,874UniSTSGRCm38
MGSCv371179,217,278 - 79,217,376UniSTSGRCm37
Celera1189,036,185 - 89,036,283UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.08UniSTS
D11Bhm107  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,499,504 - 79,499,622UniSTSGRCm38
MGSCv371179,313,006 - 79,313,124UniSTSGRCm37
Celera1189,132,186 - 89,132,304UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.12UniSTS
D11Bhm165  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,525,644 - 79,525,912UniSTSGRCm38
MGSCv371179,339,146 - 79,339,414UniSTSGRCm37
Celera1189,158,326 - 89,158,594UniSTS
Cytogenetic Map11B5UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.13UniSTS
cM Map1146.06UniSTS
D11Bhm166  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,514,710 - 79,514,921UniSTSGRCm38
MGSCv371179,328,212 - 79,328,423UniSTSGRCm37
Celera1189,147,392 - 89,147,603UniSTS
Cytogenetic Map11B4-5UniSTS
Cytogenetic Map11B5UniSTS
cM Map1146.13UniSTS
D11Bhm167  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,514,572 - 79,514,731UniSTSGRCm38
MGSCv371179,328,074 - 79,328,233UniSTSGRCm37
Celera1189,147,254 - 89,147,413UniSTS
Cytogenetic Map11B4-5UniSTS
Cytogenetic Map11B5UniSTS
cM Map1146.13UniSTS
Nf1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11B4-5UniSTS
Nf1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381179,559,404 - 79,559,544UniSTSGRCm38
MGSCv371179,372,906 - 79,373,046UniSTSGRCm37
Celera1189,192,086 - 89,192,226UniSTS
Cytogenetic Map11B4-5UniSTS
cM Map1146.06UniSTS
Nf1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11B4-5UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_010897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006532442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_030245644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036156400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK033306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK050818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK053047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK053192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK085050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK087214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK158728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL672209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB660074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D30730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D30731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM570263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000071325   ⟹   ENSMUSP00000071289
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,230,651 - 79,472,438 (+)Ensembl
GRCm38.p6 Ensembl1179,339,825 - 79,581,612 (+)Ensembl
Ensembl Acc Id: ENSMUST00000108251   ⟹   ENSMUSP00000103886
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,230,618 - 79,469,768 (+)Ensembl
GRCm38.p6 Ensembl1179,339,792 - 79,578,942 (+)Ensembl
Ensembl Acc Id: ENSMUST00000122917
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,338,979 - 79,364,238 (+)Ensembl
GRCm38.p6 Ensembl1179,448,153 - 79,473,412 (+)Ensembl
Ensembl Acc Id: ENSMUST00000130979
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,338,979 - 79,364,238 (+)Ensembl
GRCm38.p6 Ensembl1179,448,153 - 79,473,412 (+)Ensembl
Ensembl Acc Id: ENSMUST00000131800
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,230,713 - 79,321,614 (+)Ensembl
GRCm38.p6 Ensembl1179,339,887 - 79,430,788 (+)Ensembl
Ensembl Acc Id: ENSMUST00000137997   ⟹   ENSMUSP00000120982
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,437,134 - 79,470,874 (+)Ensembl
GRCm38.p6 Ensembl1179,546,308 - 79,580,048 (+)Ensembl
Ensembl Acc Id: ENSMUST00000145839
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,230,519 - 79,236,012 (+)Ensembl
GRCm38.p6 Ensembl1179,339,693 - 79,345,186 (+)Ensembl
Ensembl Acc Id: ENSMUST00000146699
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,427,734 - 79,460,941 (+)Ensembl
GRCm38.p6 Ensembl1179,536,908 - 79,570,115 (+)Ensembl
Ensembl Acc Id: ENSMUST00000219057   ⟹   ENSMUSP00000151975
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1179,230,618 - 79,349,732 (+)Ensembl
GRCm38.p6 Ensembl1179,339,792 - 79,458,906 (+)Ensembl
RefSeq Acc Id: NM_010897   ⟹   NP_035027
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391179,230,718 - 79,472,435 (+)NCBI
GRCm381179,339,892 - 79,581,609 (+)NCBI
MGSCv371179,153,394 - 79,395,111 (+)RGD
Celera1189,016,599 - 89,214,295 (+)RGD
cM Map11 ENTREZGENE
Sequence: