Fbn1 (fibrillin 1) - Rat Genome Database

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Gene: Fbn1 (fibrillin 1) Mus musculus
Symbol: Fbn1
Name: fibrillin 1
RGD ID: 731578
Description: Enables hormone activity. Involved in several processes, including maintenance of protein location in extracellular region; negative regulation of cell differentiation; and positive regulation of appetite. Acts upstream of or within gene expression and lung alveolus development. Located in collagen-containing extracellular matrix and microfibril. Is active in extracellular space. Is expressed in several structures, including cardiovascular system; connective tissue; eye; genitourinary system; and respiratory system. Used to study Marfan syndrome; Weill-Marchesani syndrome; heart disease; pulmonary emphysema; and systemic scleroderma. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AI536462; B430209H23; Fib-; Fib-1; fibrillin-1; tight skin; Tsk
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm392125,142,514 - 125,348,417 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2125,142,514 - 125,349,913 (-)EnsemblGRCm39 Ensembl
GRCm382125,300,594 - 125,506,485 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2125,300,594 - 125,507,993 (-)EnsemblGRCm38mm10GRCm38
MGSCv372125,126,330 - 125,332,174 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362124,992,037 - 125,197,826 (-)NCBIMGSCv36mm8
Celera2126,545,438 - 126,751,399 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.38NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
achondroplasia  (ISO)
acromicric dysplasia  (ISO)
Albuminuria  (IMP)
Aneurysm  (ISO)
aortic aneurysm  (IAGP,ISO)
aortic disease  (ISO)
aortic dissection  (ISO)
Aortic Rupture  (ISO)
aortic valve insufficiency  (ISO)
Arachnodactyly  (ISO)
arthrogryposis, renal dysfunction, and cholestasis 1  (ISO)
autosomal dominant isolated ectopia lentis 1  (ISO)
Beaulieu-Boycott-Innes Syndrome  (ISO)
Bloom syndrome  (ISO)
Brugada syndrome 1  (ISO)
Cardiac Fibrosis  (ISO)
cataract  (ISO)
cerebral infarction  (ISO)
Charcot-Marie-Tooth disease type 2EE  (ISO)
colorectal cancer  (ISO)
congenital diaphragmatic hernia  (ISO)
connective tissue disease  (ISO)
craniosynostosis  (ISO)
Craniosynostosis Syndrome, Autosomal Recessive  (ISO)
CREST syndrome  (ISO)
Diabetic Nephropathies  (IMP)
dilated cardiomyopathy  (ISO)
Disproportionate Tall Stature  (ISO)
Dwarfism  (ISO)
Ectopia Lentis  (ISO)
Emphysema  (IMP)
endometriosis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Familial Thoracic Aortic Aneurysm 1  (ISO)
Familial Thoracic Aortic Aneurysm 2  (ISO)
Familial Thoracic Aortic Aneurysm 6  (ISO)
Flatfoot  (ISO)
Funnel Chest  (ISO)
geleophysic dysplasia  (ISO)
geleophysic dysplasia 2  (ISO)
genetic disease  (ISO)
glomerulonephritis  (ISO)
glomerulosclerosis  (IMP)
heart disease  (IAGP,ISO)
High Myopia  (ISO)
Hirschsprung Disease 1  (ISO)
Hirschsprung's disease  (ISO)
hydronephrosis  (IEP)
hyperglycemia  (ISO)
hyperinsulinism  (ISO)
hypertension  (ISO)
isolated ectopia lentis  (ISO)
Joint Instability  (ISO)
lens subluxation  (ISO)
liver cirrhosis  (ISO)
Liver Injury  (ISO)
Loeys-Dietz syndrome  (ISO)
Loeys-Dietz syndrome 2  (ISO)
Marfan Lipodystrophy Syndrome  (ISO)
Marfan syndrome  (IAGP,IMP,ISO)
Marfan Syndrome, Autosomal Recessive  (ISO)
Marfanoid Hypermobility Syndrome  (ISO)
MASS Syndrome  (ISO)
melanoma  (ISO)
mesangial proliferative glomerulonephritis  (ISO)
Metaphyseal Chondrodysplasia  (ISO)
mitral valve insufficiency  (ISO)
mitral valve prolapse  (ISO)
mixed connective tissue disease  (ISO)
myopathy  (ISO)
myopia  (ISO)
osteomalacia  (IEP)
osteoporosis  (ISO)
Pectus Carinatum  (ISO)
Perrault Syndrome 1  (ISO)
Polycystic Liver Disease 1  (ISO)
scoliosis  (ISO)
stiff skin syndrome  (ISO)
Striae Distensae  (ISO)
Stroke  (ISO)
systemic scleroderma  (IAGP,IMP,ISO)
thoracic aortic aneurysm  (ISO)
type 2 diabetes mellitus  (ISO)
ureteral obstruction  (IDA,IEP)
Weill-Marchesani syndrome  (IAGP,ISO)
Weill-Marchesani Syndrome 2  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(S)-nicotine  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylcholine  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
atrazine  (ISO)
belinostat  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP,ISO)
bisphenol F  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cantharidin  (EXP)
captan  (EXP)
carbon nanotube  (EXP)
carmustine  (ISO)
CGP 52608  (ISO)
chlorogenic acid  (ISO)
chloroprene  (EXP)
choline  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (ISO)
dexamethasone  (EXP)
dextran sulfate  (EXP)
diethyl maleate  (ISO)
dimethylarsinic acid  (ISO)
diquat  (EXP)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
endosulfan  (ISO)
entinostat  (ISO)
ethanol  (EXP)
fenamidone  (EXP)
folic acid  (EXP)
folpet  (EXP)
fulvestrant  (ISO)
furan  (ISO)
geldanamycin  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
indometacin  (EXP)
inulin  (EXP)
L-methionine  (EXP)
lead diacetate  (EXP)
lead(0)  (ISO)
leflunomide  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylmercury chloride  (ISO)
morphine  (EXP)
N-nitrosodimethylamine  (ISO)
nickel atom  (ISO)
nickel sulfate  (ISO)
nicotine  (EXP)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
panobinostat  (ISO)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenylephrine  (EXP)
phenylmercury acetate  (ISO)
Pomiferin  (ISO)
potassium chromate  (ISO)
potassium dichromate  (EXP)
pravastatin  (EXP)
prostaglandin I2  (EXP)
puerarin  (ISO)
Rosavin  (ISO)
rotenone  (ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (ISO)
testosterone  (EXP)
tetrachloromethane  (EXP,ISO)
tetradecane  (ISO)
tetrathiomolybdate(2-)  (ISO)
thimerosal  (ISO)
thioacetamide  (ISO)
thromboxane A2  (EXP)
titanium dioxide  (EXP)
topotecan  (ISO)
triadimefon  (ISO)
Tributyltin oxide  (EXP)
trichostatin A  (ISO)
triclosan  (ISO)
trimellitic anhydride  (EXP)
triphenyl phosphate  (ISO)
triptonide  (EXP)
troglitazone  (EXP,ISO)
undecane  (ISO)
valproic acid  (ISO)
vancomycin  (EXP)
vinclozolin  (ISO)
vorinostat  (ISO)
zaragozic acid A  (EXP,ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal alveolar pore morphology  (IAGP)
abnormal aorta elastic fiber morphology  (IAGP)
abnormal aorta elastic tissue morphology  (IAGP)
abnormal aorta elastin content  (IAGP)
abnormal aorta morphology  (IAGP)
abnormal aorta tunica adventitia morphology  (IAGP)
abnormal aorta tunica intima morphology  (IAGP)
abnormal aorta tunica media morphology  (IAGP)
abnormal aorta wall morphology  (IAGP)
abnormal arterial thrombosis  (IAGP)
abnormal blood vessel morphology  (IAGP)
abnormal bone marrow cell morphology/development  (IAGP)
abnormal bone remodeling  (IAGP)
abnormal bone trabecula morphology  (IAGP)
abnormal bronchiole morphology  (IAGP)
abnormal cardiovascular system morphology  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal costal cartilage morphology  (IAGP)
abnormal cutaneous collagen fibril morphology  (IAGP)
abnormal cutaneous microfibril morphology  (IAGP)
abnormal dermal layer morphology  (IAGP)
abnormal dermis papillary layer morphology  (IAGP)
abnormal dermis reticular layer collagen network  (IAGP)
abnormal dermis reticular layer morphology  (IAGP)
abnormal diaphragm morphology  (IAGP)
abnormal heart morphology  (IAGP)
abnormal heart right ventricle morphology  (IAGP)
abnormal hypodermis morphology  (IAGP)
abnormal intercostal muscle morphology  (IAGP)
abnormal interleukin secretion  (IAGP)
abnormal lung development  (IAGP)
abnormal lung morphology  (IAGP)
abnormal lung vasculature morphology  (IAGP)
abnormal mitral valve cusp morphology  (IAGP)
abnormal neuron physiology  (IAGP)
abnormal pelvic girdle bone morphology  (IAGP)
abnormal postnatal growth/weight/body size  (IAGP)
abnormal pulmonary alveolus morphology  (IAGP)
abnormal pulmonary alveolus wall morphology  (IAGP)
abnormal pulmonary interalveolar septum morphology  (IAGP)
abnormal pulmonary neuroendocrine body morphology  (IAGP)
abnormal respiratory bronchiole morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal skeletal muscle fiber morphology  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skin condition  (IEA)
abnormal skin morphology  (IAGP)
abnormal skin physiology  (IAGP)
abnormal skin tensile strength  (IAGP)
abnormal skin turgor  (IAGP)
abnormal T-helper 1 cell morphology  (IAGP)
abnormal tendon morphology  (IAGP)
abnormal tendon sheath morphology  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal tracheal cartilage morphology  (IAGP)
abnormal urinary bladder morphology  (IAGP)
abnormal urinary bladder physiology  (IAGP)
abnormal uterine NK cell morphology  (IAGP)
abnormal vascular endothelial cell physiology  (IAGP)
abnormal vasodilation  (IAGP)
absent coat pigmentation  (IAGP)
absent mast cells  (IAGP)
alveolitis  (IAGP)
anemia  (IAGP)
aortic aneurysm  (IAGP)
aortic dissection  (IAGP)
aortic elastic tissue lesions  (IAGP)
aortic sinus aneurysm  (IAGP)
aortitis  (IAGP)
ascending aorta aneurysm  (IAGP)
brachyphalangia  (IAGP)
calcified aorta  (IAGP)
cardiac fibrosis  (IAGP)
cardiac hypertrophy  (IAGP)
decreased body fat mass  (IAGP)
decreased body weight  (IAGP)
decreased bone mass  (IAGP)
decreased bone mineral density  (IAGP)
decreased bone trabecula number  (IAGP)
decreased bone volume  (IAGP)
decreased circulating leptin level  (IAGP)
decreased energy expenditure  (IAGP)
decreased food intake  (IAGP)
decreased interleukin-4 secretion  (IAGP)
decreased lean body mass  (IAGP)
decreased length of long bones  (IAGP)
decreased lymphocyte cell number  (IEA)
decreased respiration  (IAGP)
decreased subcutaneous adipose tissue amount  (IAGP)
decreased susceptibility to diet-induced obesity  (IAGP)
decreased trabecular bone thickness  (IAGP)
diaphragmatic hernia  (IAGP)
dilated aorta bulb  (IAGP)
dilated ascending aorta  (IAGP)
dilated heart atrium  (IAGP)
dilated heart right ventricle  (IAGP)
dilated pulmonary alveolar duct  (IAGP)
diluted coat color  (IAGP)
embryonic lethality between implantation and somite formation, complete penetrance  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
emphysema  (IAGP)
enlarged chest  (IAGP)
enlarged cranium  (IAGP)
enlarged heart  (IAGP)
enlarged lumbar vertebrae  (IAGP)
enlarged thoracic cavity  (IAGP)
epidermal hyperplasia  (IAGP)
heart right ventricle hypertrophy  (IAGP)
hemopericardium  (IAGP)
hemorrhage  (IAGP)
hemothorax  (IAGP)
hunched posture  (IAGP)
impaired lung alveolus development  (IAGP)
increased anti-nuclear antigen antibody level  (IAGP)
increased aorta wall thickness  (IAGP)
increased autoantibody level  (IAGP)
increased B cell number  (IAGP)
increased heart left atrium size  (IAGP)
increased heart left ventricle size  (IAGP)
increased interleukin-13 secretion  (IAGP)
increased interleukin-9 secretion  (IAGP)
increased length of long bones  (IAGP)
increased lung compliance  (IAGP)
increased mast cell number  (IAGP)
increased mean platelet volume  (IEA)
increased neutrophil cell number  (IEA)
increased number of pulmonary neuroendocrine bodies  (IAGP)
increased plasma cell number  (IAGP)
increased solitary pulmonary neuroendocrine cell number  (IAGP)
increased spleen weight  (IEA)
increased susceptibility to type IV hypersensitivity reaction  (IAGP)
increased total lung capacity  (IAGP)
kyphosis  (IAGP)
lethality throughout fetal growth and development, complete penetrance  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
long mandible  (IAGP)
long ribs  (IAGP)
lung hemorrhage  (IAGP)
lung inflammation  (IAGP)
mitral valve prolapse  (IAGP)
mitral valve regurgitation  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
overexpanded pulmonary alveolus  (IAGP)
polyuria  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
premature death  (IAGP)
prenatal lethality  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, incomplete penetrance  (IEA)
respiratory distress  (IAGP)
short metacarpal bones  (IAGP)
short radius  (IAGP)
short tibia  (IAGP)
short ulna  (IAGP)
skin fibrosis  (IAGP)
thick dermal layer  (IAGP)
thick hypodermis  (IAGP)
thick pulmonary interalveolar septum  (IAGP)
thick skin  (IAGP)
tight skin  (IAGP)
variable body spotting  (IAGP)

References - curated
# Reference Title Reference Citation
1. Ectopia lentis phenotypes and the FBN1 gene. Ades LC, etal., Am J Med Genet A. 2004 Apr 30;126(3):284-9.
2. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. Ades LC, etal., J Med Genet. 1996 Aug;33(8):665-71.
3. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Arbustini E, etal., Hum Mutat. 2005 Nov;26(5):494.
4. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Attanasio M, etal., Clin Genet. 2008 Jul;74(1):39-46. doi: 10.1111/j.1399-0004.2008.01007.x. Epub 2008 Apr 22.
5. Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for marfan syndrome. Beene LC, etal., Invest Ophthalmol Vis Sci. 2013 Dec 23;54(13):8337-44. doi: 10.1167/iovs.13-13121.
6. Enhanced expression of fibrillin-1, a constituent of the myocardial extracellular matrix in fibrosis. Bouzeghrane F, etal., Am J Physiol Heart Circ Physiol. 2005 Sep;289(3):H982-91. Epub 2005 Apr 22.
7. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Buchan JG, etal., Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15.
8. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Challa P, etal., Mol Vis. 2006 Aug 28;12:1009-15.
9. Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse. Chou HT, etal., J Heart Valve Dis. 2003 Jul;12(4):475-81.
10. Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Chung AW, etal., Circ Res. 2007 Aug 31;101(5):512-22. Epub 2007 Jul 19.
11. Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome. De Backer J, etal., Clin Genet. 2007 Sep;72(3):188-98.
12. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Faivre L, etal., J Med Genet. 2003 Jan;40(1):34-6.
13. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Francke U, etal., Am J Hum Genet 1995 Jun;56(6):1287-96.
14. Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Franken R, etal., Circ Cardiovasc Genet. 2015 Apr;8(2):383-8. doi: 10.1161/CIRCGENETICS.114.000950. Epub 2015 Jan 22.
15. Genotype impacts survival in Marfan syndrome. Franken R, etal., Eur Heart J. 2016 Nov 14;37(43):3285-3290. Epub 2016 Jan 18.
16. Epigenetic changes and alteration of Fbn1 and Col3A1 gene expression under hyperglycaemic and hyperinsulinaemic conditions. Gaikwad AB, etal., Biochem J. 2010 Dec 1;432(2):333-41. doi: 10.1042/BJ20100414.
17. Role of fibrillin-1 in hypertensive and diabetic glomerular disease. Hartner A, etal., Am J Physiol Renal Physiol. 2006 Jun;290(6):F1329-36. Epub 2005 Dec 27.
18. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hilhorst-Hofstee Y, etal., Hum Mutat. 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372.
19. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis. Hung CC, etal., Anal Biochem. 2009 Jun 15;389(2):102-6. doi: 10.1016/j.ab.2009.03.032. Epub 2009 Mar 27.
20. Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Hutchinson S, etal., Hum Genet 2001 Oct;109(4):416-20.
21. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Kainulainen K, etal., Nat Genet 1994 Jan;6(1):64-9.
22. Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. Kodera T, etal., Gene. 2002 Sep 4;297(1-2):61-7.
23. Molecular pathology of Shprintzen-Goldberg syndrome. Kosaki K, etal., Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10.
24. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis. Li H, etal., Mol Vis. 2012;18:504-11. Epub 2012 Feb 24.
25. Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Liang C, etal., Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.
26. A Pkd1-Fbn1 Genetic Interaction Implicates TGF-beta Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease. Liu D, etal., J Am Soc Nephrol. 2013 Sep 26.
27. Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome. Liu W, etal., Hum Mol Genet. 1996 Oct;5(10):1581-7.
28. Fibrillin-1 expression in normal and fibrotic rat liver and in cultured hepatic fibroblastic cells: modulation by mechanical stress and role in cell adhesion. Lorena D, etal., Lab Invest. 2004 Feb;84(2):203-12.
29. Fibrillin-1 and alpha8 integrin are co-expressed in the glomerulus and interact to convey adhesion of mesangial cells. Marek I, etal., Cell Adh Migr. 2014;8(4):389-95. doi: 10.4161/cam.28988.
30. Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. Meng B, etal., Mol Vis. 2011;17:2421-7. Epub 2011 Sep 17.
31. MGDs mouse GO annotations MGD data from the GO Consortium
33. Osteomalacia in hyp mice is associated with abnormal phex expression and with altered bone matrix protein expression and deposition. Miao D, etal., Endocrinology. 2001 Feb;142(2):926-39.
34. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Micheal S, etal., Mol Vis. 2012;18:1918-26. Epub 2012 Jul 18.
35. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Neptune ER, etal., Nat Genet 2003 Mar;33(3):407-11.
36. Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. Ogawa N, etal., Am J Cardiol. 2011 Dec 15;108(12):1801-7. doi: 10.1016/j.amjcard.2011.07.053. Epub 2011 Sep 10.
37. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome. Oh MR, etal., Pediatr Int. 2000 Oct;42(5):488-91.
38. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
39. Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. Pepe G, etal., Clin Genet. 2001 Jun;59(6):444-50.
40. A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. Pepe G, etal., J Mol Cell Cardiol. 1997 Jul;29(7):1877-84.
41. Fibrillin-1 regulates mesangial cell attachment, spreading, migration and proliferation. Porst M, etal., Kidney Int. 2006 Feb;69(3):450-6.
42. Induction and coexpression of latent transforming growth factor beta-binding protein-1 and fibrillin-1 in experimental glomerulonephritis. Porst M, etal., Nephron Exp Nephrol. 2006;102(3-4):e99-104. Epub 2005 Nov 11.
43. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Putnam EA, etal., Am J Med Genet. 1996 Mar 29;62(3):233-42.
44. Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). Qin Y, etal., Neuro Endocrinol Lett. 2007 Oct;28(5):629-32.
45. Mouse MP Annotation Import Pipeline RGD automated import pipeline
46. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
47. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
48. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Rommel K, etal., Hum Mutat. 2005 Dec;26(6):529-39.
49. Genetic and immunologic features associated with scleroderma-like syndrome of TSK mice. Saito S, etal., Curr Rheumatol Rep. 1999 Oct;1(1):34-7.
50. Regulation of fibrillin-1 by biglycan and decorin is important for tissue preservation in the kidney during pressure-induced injury. Schaefer L, etal., Am J Pathol. 2004 Aug;165(2):383-96.
51. Decorin-mediated regulation of fibrillin-1 in the kidney involves the insulin-like growth factor-I receptor and Mammalian target of rapamycin. Schaefer L, etal., Am J Pathol. 2007 Jan;170(1):301-15.
52. Sequence variations in the 5' upstream regions of the FBN1 gene associated with Marfan syndrome. Singh KK, etal., Eur J Hum Genet. 2006 Jul;14(7):876-9. Epub 2006 Apr 12.
53. [Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family]. Sui RF, etal., Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.
54. Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. Tan FK, etal., J Immunol. 1999 Jul 15;163(2):1066-72.
55. Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients. Uyeda T, etal., J Hum Genet. 2004;49(8):404-7. Epub 2004 Jun 23.
56. Molecular constituents of the extracellular matrix in rat liver mounting a hepatic progenitor cell response for tissue repair. Vestentoft PS, etal., Fibrogenesis Tissue Repair. 2013 Dec 20;6(1):21. doi: 10.1186/1755-1536-6-21.
57. C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family. Wang F, etal., Mol Vis. 2015 Feb 23;21:194-200. eCollection 2015.
58. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. Wang WJ, etal., J Mol Med (Berl). 2013 Jan;91(1):37-47. doi: 10.1007/s00109-012-0931-y. Epub 2012 Jul 8.
59. A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family. Zhai Y, etal., Int J Ophthalmol. 2015 Oct 18;8(5):855-9. doi: 10.3980/j.issn.2222-3959.2015.05.01. eCollection 2015.
60. Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Zhao F, etal., Mol Vis. 2013 Apr 5;19:751-8. Print 2013.
61. Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). Zhao JH, etal., Ophthalmic Genet. 2013 Mar-Jun;34(1-2):21-6. doi: 10.3109/13816810.2012.718029. Epub 2012 Sep 6.
Additional References at PubMed
PMID:176891   PMID:1382866   PMID:1433576   PMID:1451140   PMID:1576433   PMID:1587342   PMID:1617705   PMID:1912584   PMID:2307213   PMID:2416757   PMID:2912343   PMID:3600652  
PMID:4048170   PMID:6562869   PMID:6604585   PMID:6847727   PMID:6971670   PMID:7271067   PMID:7359004   PMID:7523551   PMID:7561939   PMID:7633422   PMID:7688852   PMID:7704626  
PMID:7710717   PMID:7721853   PMID:7744963   PMID:7783425   PMID:7829516   PMID:7860770   PMID:7873879   PMID:7902327   PMID:7911425   PMID:7918007   PMID:7959775   PMID:8006086  
PMID:8058758   PMID:8070538   PMID:8111131   PMID:8155252   PMID:8160820   PMID:8166647   PMID:8221765   PMID:8307578   PMID:8318045   PMID:8349828   PMID:8370075   PMID:8397715  
PMID:8592087   PMID:8603845   PMID:8723723   PMID:8780155   PMID:8791520   PMID:8809305   PMID:8864822   PMID:9154158   PMID:9326947   PMID:9370305   PMID:9405934   PMID:9415455  
PMID:9451590   PMID:9490728   PMID:9642685   PMID:9799844   PMID:10088787   PMID:10097121   PMID:10349636   PMID:10403482   PMID:10486156   PMID:10691037   PMID:10848613   PMID:10931876  
PMID:11042159   PMID:11076861   PMID:11126198   PMID:11139471   PMID:11162578   PMID:11168806   PMID:11168809   PMID:11217851   PMID:11263788   PMID:11451749   PMID:11470817   PMID:11518254  
PMID:11891315   PMID:12045259   PMID:12122015   PMID:12429739   PMID:12466851   PMID:12477932   PMID:12485443   PMID:12590922   PMID:12655582   PMID:12847692   PMID:15022335   PMID:15254584  
PMID:15277237   PMID:15480770   PMID:15546004   PMID:15610515   PMID:15657057   PMID:15682009   PMID:15733672   PMID:15810888   PMID:15955088   PMID:16127425   PMID:16141072   PMID:16141073  
PMID:16407178   PMID:16439805   PMID:16488411   PMID:16530041   PMID:16601194   PMID:16602821   PMID:16936269   PMID:17015622   PMID:17099216   PMID:17237794   PMID:17339838   PMID:17496220  
PMID:17579093   PMID:17581616   PMID:17587800   PMID:17705049   PMID:17884256   PMID:17943183   PMID:18178469   PMID:18258849   PMID:18287559   PMID:18339630   PMID:18458238   PMID:18651661  
PMID:18653538   PMID:18695204   PMID:19109253   PMID:19334288   PMID:19349279   PMID:19541933   PMID:19573590   PMID:19635970   PMID:19814725   PMID:19814726   PMID:19850904   PMID:19940141  
PMID:19948973   PMID:20182440   PMID:20404337   PMID:20498044   PMID:20529844   PMID:20551991   PMID:20714769   PMID:20729550   PMID:20855508   PMID:20871099   PMID:21152435   PMID:21160034  
PMID:21267068   PMID:21432852   PMID:21440062   PMID:21493862   PMID:21493863   PMID:21683322   PMID:21730037   PMID:21778429   PMID:21780244   PMID:21873635   PMID:21880733   PMID:21979435  
PMID:22116819   PMID:22159717   PMID:22242013   PMID:22374917   PMID:22542159   PMID:22550139   PMID:22685574   PMID:22772368   PMID:22984535   PMID:23022329   PMID:23055981   PMID:23100322  
PMID:23104139   PMID:23115041   PMID:23159943   PMID:23251680   PMID:23294503   PMID:23459311   PMID:23493297   PMID:23658023   PMID:24006456   PMID:24039232   PMID:24107997   PMID:24157418  
PMID:24401272   PMID:24401839   PMID:24449804   PMID:24531548   PMID:24753820   PMID:24867584   PMID:25086405   PMID:25238161   PMID:25238995   PMID:25359856   PMID:25524144   PMID:25534817  
PMID:25541192   PMID:25614286   PMID:25670798   PMID:25762570   PMID:25797463   PMID:25988230   PMID:26042521   PMID:26189658   PMID:26281765   PMID:26371162   PMID:26405179   PMID:26408953  
PMID:26494287   PMID:26506064   PMID:26566724   PMID:26610678   PMID:26718974   PMID:26798667   PMID:26816005   PMID:26840980   PMID:26902431   PMID:26927851   PMID:26945079   PMID:26945878  
PMID:26967475   PMID:27003297   PMID:27050551   PMID:27087445   PMID:27090893   PMID:27256716   PMID:27283746   PMID:27386756   PMID:27527664   PMID:27824871   PMID:27892729   PMID:27956365  
PMID:28067899   PMID:28069701   PMID:28071719   PMID:28119285   PMID:28302382   PMID:28347539   PMID:28385916   PMID:28395026   PMID:28455451   PMID:28539414   PMID:28708846   PMID:28768908  
PMID:28944086   PMID:28947563   PMID:29040313   PMID:29093270   PMID:29106398   PMID:29112946   PMID:29187826   PMID:29246325   PMID:29300219   PMID:29371244   PMID:29433732   PMID:29471108  
PMID:29515022   PMID:29515038   PMID:29520069   PMID:29567669   PMID:29625025   PMID:29765495   PMID:29769563   PMID:30004239   PMID:30201140   PMID:30306291   PMID:30306735   PMID:30359839  
PMID:30389913   PMID:30406200   PMID:30429287   PMID:30550785   PMID:30571378   PMID:30578393   PMID:30642872   PMID:30677223   PMID:30738849   PMID:30765726   PMID:30853600   PMID:30904162  
PMID:30997682   PMID:31043570   PMID:31123721   PMID:31125551   PMID:31201465   PMID:31230984   PMID:31251835   PMID:31284709   PMID:31402541   PMID:31476316   PMID:31550482   PMID:31678158  
PMID:31724332   PMID:31725753   PMID:31798959   PMID:31805661   PMID:31928435   PMID:32039915   PMID:32173378   PMID:32188275   PMID:32325033   PMID:32337066   PMID:32346027   PMID:32514132  
PMID:32557691   PMID:32578852   PMID:32616814   PMID:32698686   PMID:32730638   PMID:32797197   PMID:32824919   PMID:32882513   PMID:32948785   PMID:32987703   PMID:33059492   PMID:33126053  
PMID:33175881   PMID:33471064   PMID:33571112   PMID:33705351   PMID:33709773   PMID:33722956   PMID:33976159   PMID:34042309   PMID:34171513   PMID:34189436   PMID:34321999   PMID:34323105  
PMID:34349174   PMID:34407634   PMID:34714692   PMID:34769168   PMID:35125496   PMID:35163812   PMID:35167946   PMID:35356426   PMID:35503090   PMID:35533973   PMID:35567544   PMID:35660865  
PMID:35697767   PMID:35739142   PMID:35757348   PMID:35759435   PMID:35768505   PMID:35894043   PMID:36198355   PMID:36207400   PMID:36289219   PMID:36291539   PMID:36347404   PMID:36577770  
PMID:36693798   PMID:36779913   PMID:36812308   PMID:36825302   PMID:37081014   PMID:37252932   PMID:37252964   PMID:37511051   PMID:37686377   PMID:38347040  


Comparative Map Data
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm392125,142,514 - 125,348,417 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2125,142,514 - 125,349,913 (-)EnsemblGRCm39 Ensembl
GRCm382125,300,594 - 125,506,485 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2125,300,594 - 125,507,993 (-)EnsemblGRCm38mm10GRCm38
MGSCv372125,126,330 - 125,332,174 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362124,992,037 - 125,197,826 (-)NCBIMGSCv36mm8
Celera2126,545,438 - 126,751,399 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.38NCBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381548,408,313 - 48,645,709 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1548,408,313 - 48,645,721 (-)EnsemblGRCh38hg38GRCh38
GRCh371548,700,510 - 48,937,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,487,797 - 46,725,210 (-)NCBINCBI36Build 36hg18NCBI36
Build 341546,489,478 - 46,724,391NCBI
Celera1525,592,970 - 25,831,601 (-)NCBICelera
Cytogenetic Map15q21.1NCBI
HuRef1525,532,899 - 25,770,042 (-)NCBIHuRef
CHM1_11548,818,485 - 49,055,993 (-)NCBICHM1_1
T2T-CHM13v2.01546,216,487 - 46,453,900 (-)NCBIT2T-CHM13v2.0
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
mRatBN7.23112,554,257 - 112,750,835 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3112,554,925 - 112,750,889 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3116,414,669 - 116,616,220 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03125,010,184 - 125,211,733 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03122,670,545 - 122,872,088 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03117,569,708 - 117,766,160 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3117,569,697 - 117,766,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03124,094,458 - 124,290,346 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43112,608,480 - 112,804,118 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13112,514,052 - 112,709,691 (-)NCBI
Celera3111,411,207 - 111,605,886 (-)NCBICelera
Cytogenetic Map3q36NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_0049554095,281,603 - 5,504,761 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554095,281,603 - 5,502,547 (+)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
NHGRI_mPanPan11541,831,805 - 42,066,801 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01527,358,780 - 27,593,539 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11545,680,688 - 45,918,111 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1545,682,450 - 45,918,111 (-)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.13014,640,973 - 14,864,151 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3014,640,973 - 14,864,151 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3014,562,604 - 14,785,910 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03014,774,842 - 14,998,080 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3014,774,842 - 14,998,080 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13014,697,727 - 14,920,887 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03014,812,844 - 15,036,221 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03014,925,119 - 15,148,304 (-)NCBIUU_Cfam_GSD_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440864092,898,887 - 93,121,188 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647110,746,996 - 10,969,231 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647110,747,030 - 10,969,223 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl1123,102,009 - 123,359,649 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11123,102,011 - 123,359,649 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21137,103,509 - 137,303,481 (+)NCBISscrofa10.2Sscrofa10.2susScr3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.12634,637,916 - 34,877,499 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2634,638,838 - 34,879,217 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048106,249,703 - 106,490,285 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_00462473111,086,844 - 11,318,102 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473111,086,240 - 11,318,111 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Fbn1
7311 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:579
Count of miRNA genes:268
Interacting mature miRNAs:292
Transcripts:ENSMUST00000028633, ENSMUST00000103234, ENSMUST00000148272
Prediction methods:Miranda, Rnahybrid
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
1302174Dssc2_mdextran sodium sulfate induced colitis QTL2 (mouse)Not determined224224632148700377Mouse
4141854T2dm2sa_mtype 2 diabetes mellitus 2 in SMXA RI mice (mouse)Not determined229307947148374934Mouse
1301344Lith1_mlithogenic gene 1 (mouse)Not determined245347635145312647Mouse
13824983Vclq1_mcurvilinear velocity QTL 1 (mouse)261830344136841920Mouse
5491197Mobq5_mmultigenic obesity QTL 5 (mouse)Not determined265269746162518926Mouse
11528549Sluc31_msusceptibility to lung cancer 31 (mouse)274524117129213005Mouse
4141155Plast2b_mplasma plant sterol 2b (mouse)Not determined284013198148522175Mouse
10412082Hylaq1_mHyperlocomotor activity related QTL 1 (mouse)Not determined284013198148667470Mouse
5491196Mobq6_mmultigenic obesity QTL 6 (mouse)Not determined285724269180896594Mouse
1301909Smdq2_msegregation of mitochondrial DNA QTL 2 (mouse)Not determined292778465126778607Mouse
27226761Feml18_mfemur length 18, 16 week (mouse)294230345154241920Mouse
11049569Lmr28d_mleishmaniasis resistance 28d (mouse)297123370131123532Mouse
11049568Lmr28c_mleishmaniasis resistance 28c (mouse)297123370131123532Mouse
12904935Edlmmq2_mextensor digitorum longus muscle mass QTL 2 (mouse)297210364131210364Mouse
12904954Gmmq2_mgastrocnemius muscle mass QTL 2 (mouse)297210364131210364Mouse
4141802Ignpq1_mIgA nephropathy QTL 1 (mouse)Not determined2100824060134824269Mouse
1302203Gvhd3_mgraft-versus host disease 3 (mouse)Not determined2100942930134943090Mouse
1301330Tbbmd2_mtotal body bone mineral density 2 (mouse)Not determined2100942930134943090Mouse
1302071Fembrs1_mfemur breaking strength 1 (mouse)Not determined2100942930134943090Mouse
27226788Feml13_mfemur length 13, 10 week (mouse)2102630345159941920Mouse
11041906Lmr28a_mleishmaniasis resistance 28a (mouse)2103095716129213005Mouse
11038702Ltpr2_mLeishmania tropica response 2 (mouse)2103095716167212356Mouse
1301825Pbrgcsf1_mperipheral blood stem cell response to granulocyte colony stimulating factor 1 (mouse)Not determined2106233580140233729Mouse
10043875Bw25_mbody weight QTL 25 (mouse)Not determined2107255676141255676Mouse
1301087Bbaa15_mB.burgdorferi-associated arthritis 15 (mouse)Not determined2110489658144489807Mouse
10045885Cplaq15_mcircadian period of locomotor activity 15 (mouse)Not determined2110916118154354667Mouse
1558990Skmw9_mskeletal muscle weight 9 (mouse)Not determined2111173704145173821Mouse
1300793Pcfm2_mperiosteal circumference and femur length 2 (mouse)Not determined2111173704145173821Mouse
1301905Lgth2_mbody length 2 (mouse)Not determined2111173704145173821Mouse
1301755Hrq1_mheart rate quantitative locus 1 (mouse)Not determined2111173704145173821Mouse
1301201Chab1_mcholesterol absorption 1 (mouse)Not determined2111551028145551163Mouse
1302033Nsv1_mNeuroadapted Sindbis viral RNA level 1 (mouse)Not determined2111623386145623526Mouse
1300798Actre3_mactivity response to ethanol 3 (mouse)Not determined2112024987128173821Mouse
1301415Actre4_mactivity response to ethanol 4 (mouse)Not determined2112024987128173821Mouse
11039520Ltpr2h_mLeishmania tropica response 2h (mouse)2112212746146213005Mouse
11038699Ltpr2b_mLeishmania tropica response 2b (mouse)2112212746146213005Mouse
11038700Ltpr2a_mLeishmania tropica response 2a (mouse)2112212746146213005Mouse
1301029T2dm3_mtype 2 diabetes mellitus 3 (mouse)Not determined2114288075132714157Mouse
11039521Ltpr2g_mLeishmania tropica response 2g (mouse)2115212857149212994Mouse
11038696Ltpr2f_mLeishmania tropica response 2f (mouse)2115212857149212994Mouse
1301295Prdt1_mprion disease incubation time 1 (mouse)Not determined2116077623150077741Mouse
1558881Ses7_msalmonella enteritidis susceptibility 7 (mouse)Not determined2116306330150306474Mouse
1301618Bglu1_mblood glucose level 1 (mouse)Not determined2117942930174324863Mouse
12910795Pwbwq5_mpost-weaning body weight QTL 5 (mouse)2118589253160611165Mouse
12910799Pwgrq2_mpre-weaning growth rate QTL 2 (mouse)2118589253160611165Mouse
12910812Pwgrq1_mpre-weaning growth rate QTL 1 (mouse)2118589253160611165Mouse
12910814Pwbwq1_mpre-weaning body weight QTL 1 (mouse)2118589253160611165Mouse
1300712El2_mepilepsy 2 (mouse)Not determined2122207146142532135Mouse
1301294Hrtfm5_mheart failure modifier 5 (mouse)Not determined2122883015156883131Mouse
1301066Otx2m2_morthodenticle homolog 2 (Drosophila) modifier 2 (mouse)Not determined2123231973148700377Mouse
1301822Pgia2_mproteoglycan induced arthritis 2 (mouse)Not determined2123937311157937424Mouse
27226749Femd10_mfemur midshaft diameter 10, 16 week (mouse)2124441920168241920Mouse

Markers in Region
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2FUniSTS
cM Map271.0UniSTS
cM Map271.0UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382125,464,685 - 125,464,768UniSTSGRCm38
MGSCv372125,290,421 - 125,290,504UniSTSGRCm37
Cytogenetic Map2FUniSTS
cM Map271.0UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382125,301,324 - 125,301,519UniSTSGRCm38
MGSCv372125,127,060 - 125,127,255UniSTSGRCm37
Celera2126,546,168 - 126,546,363UniSTS
Cytogenetic Map2FUniSTS
cM Map271.0UniSTS
Whitehead_YAC2 UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382125,365,310 - 125,365,429UniSTSGRCm38
MGSCv372125,191,046 - 125,191,165UniSTSGRCm37
Celera2126,613,639 - 126,613,757UniSTS
Cytogenetic Map2FUniSTS
cM Map257.9UniSTS
Whitehead Genetic257.9UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382125,308,491 - 125,309,490UniSTSGRCm38
MGSCv372125,134,227 - 125,135,226UniSTSGRCm37
Celera2126,553,426 - 126,554,425UniSTS
Cytogenetic Map2FUniSTS
cM Map271.0UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm382125,412,632 - 125,412,770UniSTSGRCm38
MGSCv372125,238,368 - 125,238,506UniSTSGRCm37
Celera2126,654,535 - 126,654,673UniSTS
Cytogenetic Map2FUniSTS
cM Map271.0UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2FUniSTS
cM Map271.0UniSTS
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2FUniSTS



Nucleotide Sequences
RefSeq Transcripts NM_007993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006498747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_036158280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF007248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK046621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK080935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK137018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK162378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK164949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL844547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL928930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CJ044840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U22493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSMUST00000028633   ⟹   ENSMUSP00000028633
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl2125,142,514 - 125,348,305 (-)Ensembl
GRCm38.p6 Ensembl2125,300,594 - 125,506,385 (-)Ensembl
RefSeq Acc Id: ENSMUST00000103234   ⟹   ENSMUSP00000099524
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl2125,142,547 - 125,349,913 (-)Ensembl
GRCm38.p6 Ensembl2125,300,627 - 125,507,993 (-)Ensembl
RefSeq Acc Id: ENSMUST00000148272
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl2125,231,676 - 125,347,992 (-)Ensembl
GRCm38.p6 Ensembl2125,389,756 - 125,506,072 (-)Ensembl
RefSeq Acc Id: NM_007993   ⟹   NP_032019
RefSeq Status: REVIEWED
Mouse AssemblyChrPosition (strand)Source
GRCm392125,142,514 - 125,348,358 (-)NCBI
GRCm382125,300,594 - 125,506,438 (-)NCBI
MGSCv372125,126,330 - 125,332,174 (-)RGD
Celera2126,545,438 - 126,751,399 (-)RGD
RefSeq Acc Id: XM_006498747   ⟹   XP_006498810
Mouse AssemblyChrPosition (strand)Source
GRCm392125,142,861 - 125,348,406 (-)NCBI
GRCm382125,300,594 - 125,506,485 (-)NCBI
RefSeq Acc Id: XM_036158280   ⟹   XP_036014173
Mouse AssemblyChrPosition (strand)Source
GRCm392125,156,514 - 125,348,417 (-)NCBI
RefSeq Acc Id: NP_032019   ⟸   NM_007993
- Peptide Label: preproprotein
- UniProtKB: A2AQ53 (UniProtKB/Swiss-Prot),   Q60826 (UniProtKB/Swiss-Prot),   Q61554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006498810   ⟸   XM_006498747
- Peptide Label: isoform X1
- UniProtKB: A2AQ53 (UniProtKB/Swiss-Prot),   Q60826 (UniProtKB/Swiss-Prot),   Q61554 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000028633   ⟸   ENSMUST00000028633
RefSeq Acc Id: ENSMUSP00000099524   ⟸   ENSMUST00000103234
RefSeq Acc Id: XP_036014173   ⟸   XM_036158280
- Peptide Label: isoform X2
Protein Domains
EGF-like   TB

RGD ID:6831357
Promoter ID:MM_KWN:31521
SO ACC ID:SO:0000170
Tissues & Cell Lines:MEF_B4,   MEF_B6
Transcripts:ENSMUST00000103234,   NM_007993,   UC008MCP.1,   UC008MCR.1
Mouse AssemblyChrPosition (strand)Source
MGSCv362125,332,266 - 125,332,766 (-)MPROMDB
RGD ID:6878572
Promoter ID:EPDNEW_M2737
Type:multiple initiation site
Description:Mus musculus fibrillin 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M2738  
Experiment Methods:Single-end sequencing.
Mouse AssemblyChrPosition (strand)Source
GRCm382125,506,066 - 125,506,126EPDNEW
RGD ID:6878574
Promoter ID:EPDNEW_M2738
Type:initiation region
Description:Mus musculus fibrillin 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M2737  
Experiment Methods:Single-end sequencing.
Mouse AssemblyChrPosition (strand)Source
GRCm382125,506,438 - 125,506,498EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:95489 AgrOrtholog
Ensembl Genes ENSMUSG00000027204 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000028633 ENTREZGENE
  ENSMUST00000028633.13 UniProtKB/Swiss-Prot
  ENSMUST00000103234.2 UniProtKB/Swiss-Prot
Gene3D-CATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chitin-bd_dom UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBN_EGF_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrillin_U_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:14118 UniProtKB/Swiss-Prot
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBN_EGF_st1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibrillin_U_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FXa_inhibition UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00683 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Fbn1 PhenoGen
PIRSF Fibrillin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51364 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57581 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBN1_MOUSE UniProtKB/Swiss-Prot
  O88840_MOUSE UniProtKB/TrEMBL
  Q60784_MOUSE UniProtKB/TrEMBL
UniProt Secondary A2AQ53 UniProtKB/Swiss-Prot
  Q60826 UniProtKB/Swiss-Prot