Sox9 (SRY (sex determining region Y)-box 9) - Rat Genome Database

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Gene: Sox9 (SRY (sex determining region Y)-box 9) Mus musculus
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Symbol: Sox9
Name: SRY (sex determining region Y)-box 9
RGD ID: 1322514
MGI Page MGI
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; beta-catenin binding activity; and nucleic acid binding activity. Involved in several processes, including intracellular signaling cassette; kidney epithelium development; and positive regulation of morphogenesis of an epithelium. Acts upstream of or within several processes, including negative regulation of cell differentiation; neurogenesis; and skeletal system development. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study campomelic dysplasia. Human ortholog(s) of this gene implicated in campomelic dysplasia; lung cancer; and lung carcinoma. Orthologous to human SOX9 (SRY-box transcription factor 9).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2010306G03Rik; AV220920; KIAA4243; mKIAA4243; mSox9; SRY-box containing gene 9; transcription factor SOX-9
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
GRCm3911112,673,036 - 112,678,583 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11112,673,050 - 112,678,586 (+)EnsemblGRCm39 Ensembl
GRCm3811112,782,210 - 112,787,757 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11112,782,224 - 112,787,760 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711112,643,524 - 112,649,071 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611112,598,314 - 112,603,839 (+)NCBIMGSCv36mm8
Celera11124,540,008 - 124,545,554 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1177.27NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (EXP)
1,2-dichloroethane  (EXP)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-hydroxypropanoic acid  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-Nitrobenzanthrone  (ISO)
4,4'-diaminodiphenylmethane  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
5-aza-2'-deoxycytidine  (ISO)
5-azacytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
allethrin  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arachidonic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
avobenzone  (ISO)
azoxystrobin  (ISO)
bellidifolin  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
berberine  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (ISO)
Brusatol  (ISO)
buta-1,3-diene  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
cannabidiol  (ISO)
carbamazepine  (ISO)
carbon nanotube  (EXP)
carmustine  (ISO)
CGP 52608  (ISO)
CHIR 99021  (EXP,ISO)
chlordecone  (EXP)
chlorpyrifos  (EXP,ISO)
choline  (EXP)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (EXP)
cisplatin  (ISO)
clobetasol  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
corticosterone  (ISO)
coumestrol  (ISO)
crocidolite asbestos  (ISO)
crotonaldehyde  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
D-glucose  (EXP)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (EXP)
dibenz[a,h]anthracene  (EXP)
dibutyl phthalate  (EXP,ISO)
dicrotophos  (ISO)
diethyl maleate  (ISO)
diheptyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
Diisodecyl phthalate  (ISO)
dimethylarsinous acid  (ISO)
dioxygen  (EXP,ISO)
dipentyl phthalate  (ISO)
diquat  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
Enterolactone  (ISO)
enzalutamide  (ISO)
erlotinib hydrochloride  (ISO)
ethanol  (EXP,ISO)
Ethylenethiourea  (EXP,ISO)
fenvalerate  (ISO)
folic acid  (EXP)
formaldehyde  (ISO)
FR900359  (ISO)
fructose  (EXP)
gallic acid  (ISO)
genistein  (EXP)
geraniol  (ISO)
glucose  (EXP)
glycerol 2-phosphate  (ISO)
glycidol  (ISO)
glyphosate  (EXP)
hyaluronic acid  (EXP)
hydralazine  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inulin  (EXP)
iohexol  (ISO)
ionomycin  (EXP)
iopamidol  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isoprenaline  (EXP)
kaempferol  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (EXP)
lead diacetate  (EXP)
leflunomide  (ISO)
leptomycin B  (EXP)
Licochalcone B  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylisothiazolinone  (ISO)
mifepristone  (ISO)
Mofezolac (TN)  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
Monobutylphthalate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
nickel sulfate  (ISO)
nicotinamide  (ISO)
nicotine  (ISO)
oxybenzone  (ISO)
ozone  (EXP)
panobinostat  (ISO)
paracetamol  (EXP)
paraquat  (EXP,ISO)
PD 0325901  (ISO)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
PhIP  (ISO)
pirinixic acid  (EXP)
prednisolone  (ISO)
prednisone  (EXP)
progesterone  (EXP,ISO)
prostaglandin E2  (EXP)
prostaglandin F2alpha  (EXP)
pyrethrins  (ISO)
rac-lactic acid  (ISO)
resmethrin  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
SB 203580  (ISO)
SB 431542  (ISO)
selenium atom  (ISO)
silicon dioxide  (ISO)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (EXP)
Soman  (ISO)
sulfamethoxazole  (ISO)
sulforaphane  (ISO)
sunitinib  (ISO)
tacrolimus hydrate  (EXP)
tamoxifen  (EXP,ISO)
temozolomide  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP)
Theaflavin 3,3'-digallate  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (ISO)
titanium dioxide  (EXP)
torin 1  (ISO)
triacsin C  (ISO)
tributylstannane  (EXP)
trichostatin A  (ISO)
triclosan  (ISO)
triphenyl phosphate  (EXP)
triphenylstannane  (ISO)
triticonazole  (ISO)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (ISO)
vorinostat  (ISO)
warfarin  (EXP)
XL147  (EXP)
zearalenone  (EXP)
zileuton  (EXP)
ziram  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anterior head development  (IMP)
aortic valve morphogenesis  (ISO)
apoptotic process  (IMP)
astrocyte fate commitment  (IGI)
bone mineralization  (IMP)
branching involved in ureteric bud morphogenesis  (IEP)
bronchus cartilage development  (IMP)
cAMP-mediated signaling  (ISO)
canonical Wnt signaling pathway  (IDA)
cartilage condensation  (IMP)
cartilage development  (IDA,IMP,ISO)
cell differentiation  (IEA)
cell fate commitment  (IGI)
cell population proliferation  (IMP)
cell proliferation involved in heart morphogenesis  (IMP)
cell-cell adhesion  (IMP)
cellular response to epidermal growth factor stimulus  (IDA)
cellular response to heparin  (IDA)
cellular response to interleukin-1  (ISO)
cellular response to mechanical stimulus  (IDA)
cellular response to retinoic acid  (IDA,ISO)
cellular response to transforming growth factor beta stimulus  (IEP,ISO)
central nervous system development  (IEP)
chondrocyte development  (IMP)
chondrocyte differentiation  (IBA,IDA,IEP,IMP)
chondrocyte differentiation involved in endochondral bone morphogenesis  (ISO)
chondrocyte hypertrophy  (IMP)
chromatin remodeling  (ISO)
cochlea morphogenesis  (IMP)
cytoskeleton organization  (IMP)
endocardial cushion morphogenesis  (IMP)
endochondral bone morphogenesis  (IMP)
endocrine pancreas development  (IMP)
epidermal growth factor receptor signaling pathway  (IDA)
epithelial cell proliferation  (IMP)
epithelial cell proliferation involved in prostatic bud elongation  (IMP)
epithelial to mesenchymal transition  (IMP)
epithelial tube branching involved in lung morphogenesis  (IGI,IMP)
ERK1 and ERK2 cascade  (IDA)
extracellular matrix assembly  (IMP)
extracellular matrix organization  (IMP)
gene expression  (IMP)
glandular epithelial cell differentiation  (IMP)
glial cell fate specification  (IMP)
growth plate cartilage chondrocyte growth  (IMP)
hair follicle development  (IMP)
Harderian gland development  (IMP)
heart development  (IBA,IMP)
heart valve development  (IMP)
heart valve formation  (IMP)
heart valve morphogenesis  (IMP)
homeostasis of number of cells within a tissue  (IMP)
intestinal epithelial cell differentiation  (IMP)
intestinal epithelial structure maintenance  (IMP)
intrahepatic bile duct development  (IMP)
lacrimal gland development  (IMP)
limb bud formation  (IEP)
lung epithelial cell differentiation  (IMP)
lung smooth muscle development  (IMP)
male germ-line sex determination  (IMP)
male gonad development  (IEP,IGI,IMP,ISO)
male sex determination  (IGI)
mammary gland development  (IEP)
mesenchymal cell apoptotic process  (IMP)
mesenchymal cell proliferation  (IMP)
metanephric nephron tubule formation  (IGI)
metanephric tubule development  (IEP)
morphogenesis of a branching epithelium  (IGI,IMP)
morphogenesis of an epithelium  (IBA)
negative regulation of apoptotic process  (IMP,ISO)
negative regulation of beta-catenin-TCF complex assembly  (IMP)
negative regulation of biomineral tissue development  (IMP,ISO)
negative regulation of bone mineralization  (IMP)
negative regulation of canonical Wnt signaling pathway  (IDA,IMP)
negative regulation of chondrocyte differentiation  (IMP)
negative regulation of DNA-templated transcription  (IDA,IMP,ISO)
negative regulation of epithelial cell differentiation  (IMP)
negative regulation of epithelial cell proliferation  (IMP)
negative regulation of fatty acid oxidation  (IDA)
negative regulation of gene expression  (IMP)
negative regulation of immune system process  (IMP)
negative regulation of mesenchymal cell apoptotic process  (IMP)
negative regulation of miRNA transcription  (ISO)
negative regulation of myoblast differentiation  (IDA)
negative regulation of ossification  (IMP,ISO)
negative regulation of osteoblast differentiation  (IDA,IMP)
negative regulation of photoreceptor cell differentiation  (IGI)
negative regulation of transcription by RNA polymerase II  (IBA,ISO)
neural crest cell development  (IMP)
neuron fate specification  (IMP)
Notch signaling pathway  (IDA)
notochord development  (IEP)
nucleosome assembly  (ISO)
oligodendrocyte differentiation  (IBA,IMP)
ossification  (IEP)
otic vesicle development  (IEP)
otic vesicle formation  (IMP)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
positive regulation of branching involved in ureteric bud morphogenesis  (IMP)
positive regulation of cartilage development  (IDA,ISO)
positive regulation of cell population proliferation  (IMP,ISO)
positive regulation of cell proliferation involved in heart morphogenesis  (IMP)
positive regulation of chondrocyte differentiation  (IBA,IDA,IMP,ISO)
positive regulation of chondrocyte proliferation  (ISO)
positive regulation of DNA-templated transcription  (IDA,IMP,ISO)
positive regulation of epithelial cell differentiation  (IMP)
positive regulation of epithelial cell migration  (IMP,ISO,ISS)
positive regulation of epithelial cell proliferation  (IMP)
positive regulation of extracellular matrix assembly  (IMP)
positive regulation of gene expression  (IGI,ISO)
positive regulation of kidney development  (IGI)
positive regulation of male gonad development  (ISO)
positive regulation of mesenchymal cell proliferation  (IMP)
positive regulation of mesenchymal stem cell differentiation  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IMP)
positive regulation of protein catabolic process  (IDA)
positive regulation of protein phosphorylation  (IDA,IMP)
positive regulation of stem cell proliferation  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP,ISO)
prostate gland development  (IEP)
prostate gland morphogenesis  (IMP)
protein localization to nucleus  (IDA)
protein phosphorylation  (IDA)
protein-containing complex assembly  (ISO)
regulation of branching involved in lung morphogenesis  (IMP)
regulation of cell adhesion  (IMP)
regulation of cell cycle process  (ISO)
regulation of cell differentiation  (IMP)
regulation of cell population proliferation  (IMP)
regulation of cell proliferation involved in tissue homeostasis  (IMP)
regulation of DNA-templated transcription  (TAS)
regulation of epithelial cell proliferation involved in lung morphogenesis  (IMP)
regulation of gene expression  (IDA)
regulation of transcription by RNA polymerase II  (IDA)
renal vesicle induction  (IMP)
response to fatty acid  (IDA)
response to organic cyclic compound  (ISO)
retina development in camera-type eye  (IGI)
retinal rod cell differentiation  (IGI)
Sertoli cell development  (IGI,ISO)
Sertoli cell differentiation  (IMP)
signal transduction  (IMP)
skeletal system development  (ISO)
somatic stem cell population maintenance  (IMP)
spermatogenesis  (IGI)
stem cell proliferation  (IMP)
tissue homeostasis  (IMP)
trachea cartilage development  (IMP)
transcription by RNA polymerase II  (IDA,IGI)
type I pneumocyte differentiation  (IMP)
ureter development  (IGI)
ureter morphogenesis  (IGI)
ureter smooth muscle cell differentiation  (IMP)
ureter urothelium development  (IEP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal angiogenesis  (IAGP)
abnormal ankle joint morphology  (IAGP)
abnormal atrioventricular cushion morphology  (IAGP)
abnormal atrioventricular valve development  (IAGP)
abnormal atrioventricular valve morphology  (IAGP)
abnormal axial skeleton morphology  (IAGP)
abnormal blood circulation  (IAGP)
abnormal blood vessel morphology  (IAGP)
abnormal bone marrow cavity morphology  (IAGP)
abnormal bone mineralization  (IAGP)
abnormal bone ossification  (IAGP)
abnormal bone remodeling  (IAGP)
abnormal branching involved in lung morphogenesis  (IAGP)
abnormal cartilage development  (IAGP)
abnormal cell differentiation  (IAGP)
abnormal chondrocyte physiology  (IAGP)
abnormal circulating chemokine level  (IAGP)
abnormal coat/ hair morphology  (IAGP)
abnormal craniofacial bone morphology  (IAGP)
abnormal craniofacial development  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal dorsal root ganglion morphology  (IAGP)
abnormal endochondral bone ossification  (IAGP)
abnormal endolymphatic duct morphology  (IAGP)
abnormal enterocyte proliferation  (IAGP)
abnormal epidermal layer morphology  (IAGP)
abnormal epiphyseal plate morphology  (IAGP)
abnormal fetal atrioventricular canal morphology  (IAGP)
abnormal foot pad morphology  (IAGP)
abnormal forelimb stylopod morphology  (IAGP)
abnormal forelimb zeugopod morphology  (IAGP)
abnormal hair follicle bulge morphology  (IAGP)
abnormal hair follicle matrix region morphology  (IAGP)
abnormal hair follicle morphology  (IAGP)
abnormal hair follicle outer root sheath morphology  (IAGP)
abnormal hair growth  (IAGP)
abnormal hair shaft morphology  (IAGP)
abnormal head shape  (IAGP)
abnormal heart valve development  (IAGP)
abnormal heart valve morphology  (IAGP)
abnormal humerus morphology  (IAGP)
abnormal hyoid bone morphology  (IAGP)
abnormal ilium morphology  (IAGP)
abnormal interatrial septum morphology  (IAGP)
abnormal ischium morphology  (IAGP)
abnormal laryngeal cartilage morphology  (IAGP)
abnormal limb bone morphology  (IAGP)
abnormal limb bud morphology  (IAGP)
abnormal limb development  (IAGP)
abnormal long bone epiphyseal plate proliferative zone  (IAGP)
abnormal long bone hypertrophic chondrocyte zone  (IAGP)
abnormal long bone morphology  (IAGP)
abnormal lung epithelium morphology  (IAGP)
abnormal male meiosis  (IAGP)
abnormal mandible morphology  (IAGP)
abnormal Meckel's cartilage morphology  (IAGP)
abnormal metacarpal bone morphology  (IAGP)
abnormal mitral valve morphology  (IAGP)
abnormal osteoblast differentiation  (IAGP)
abnormal otolith morphology  (IAGP)
abnormal pancreas development  (IAGP)
abnormal pelvic girdle bone morphology  (IAGP)
abnormal placing response  (IAGP)
abnormal primary sex determination  (IAGP)
abnormal primitive urogenital sinus morphology  (IAGP)
abnormal pubis morphology  (IAGP)
abnormal respiration  (IAGP)
abnormal response to injury  (IAGP)
abnormal rib morphology  (IAGP)
abnormal rostral-caudal body axis extension  (IAGP)
abnormal scapula morphology  (IAGP)
abnormal scapular spine morphology  (IAGP)
abnormal semilunar valve morphology  (IAGP)
abnormal seminiferous tubule morphology  (IAGP)
abnormal skeleton development  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skin condition  (IAGP)
abnormal skin morphology  (IAGP)
abnormal spleen morphology  (IAGP)
abnormal sternebra morphology  (IAGP)
abnormal sternum morphology  (IAGP)
abnormal T cell activation  (IAGP)
abnormal tail morphology  (IAGP)
abnormal temporomandibular joint morphology  (IAGP)
abnormal tendon morphology  (IAGP)
abnormal testis development  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal tracheal cartilage morphology  (IAGP)
abnormal tricuspid valve morphology  (IAGP)
abnormal trunk neural crest cell morphology  (IAGP)
abnormal ureter morphology  (IAGP)
abnormal ureter physiology  (IAGP)
abnormal ureter smooth muscle morphology  (IAGP)
abnormal vertebrae development  (IAGP)
abnormal vertebrae morphology  (IAGP)
abnormal vertebral body morphology  (IAGP)
abnormal xiphoid process morphology  (IAGP)
absent basisphenoid bone  (IAGP)
absent cartilage  (IAGP)
absent deltoid tuberosity  (IAGP)
absent hyoid bone body  (IAGP)
absent hyoid bone lesser horns  (IAGP)
absent incus  (IAGP)
absent Leydig cells  (IAGP)
absent malleus  (IAGP)
absent Meckel's cartilage  (IAGP)
absent nasal capsule  (IAGP)
absent presphenoid bone  (IAGP)
absent stapes  (IAGP)
absent sternum  (IAGP)
absent styloid process  (IAGP)
absent testis cords  (IAGP)
absent thyroid cartilage  (IAGP)
adactyly  (IAGP)
alopecia  (IAGP)
bifurcated tongue  (IAGP)
bilateral cleft palate  (IAGP)
bowed fibula  (IAGP)
bowed radius  (IAGP)
bowed tibia  (IAGP)
bowed ulna  (IAGP)
calcified mitral valve  (IAGP)
chondrodystrophy  (IAGP)
circling  (IAGP)
cleft secondary palate  (IAGP)
congestive heart failure  (IAGP)
conotruncal ridge hypoplasia  (IAGP)
cryptorchism  (IAGP)
decreased B cell number  (IAGP)
decreased body height  (IAGP)
decreased body length  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone mass  (IAGP)
decreased CD8-positive, alpha-beta T cell number  (IAGP)
decreased cell migration  (IAGP)
decreased cell proliferation  (IAGP)
decreased circulating alanine transaminase level  (IAGP)
decreased circulating aspartate transaminase level  (IAGP)
decreased compact bone thickness  (IAGP)
decreased cranium length  (IAGP)
decreased endocochlear potential  (IAGP)
decreased glucagon secretion  (IAGP)
decreased hair follicle number  (IAGP)
decreased hematocrit  (IAGP)
decreased hepatoblast number  (IAGP)
decreased incidence of tumors by chemical induction  (IAGP)
decreased inflammatory response  (IAGP)
decreased insulin secretion  (IAGP)
decreased length of long bones  (IAGP)
decreased lymphocyte cell number  (IAGP)
decreased pancreatic alpha cell mass  (IAGP)
decreased pancreatic beta cell mass  (IAGP)
decreased pancreatic delta cell number  (IAGP)
decreased percent body fat/body weight  (IAGP)
decreased PP cell number  (IAGP)
decreased Sertoli cell number  (IAGP)
decreased skeletal muscle mass  (IAGP)
decreased T cell number  (IAGP)
decreased total body fat amount  (IAGP)
decreased trabecular bone thickness  (IAGP)
dermatitis  (IAGP)
dilated cochlea  (IAGP)
dilated endolymphatic duct  (IAGP)
dilated scala media  (IAGP)
dilated ureter  (IAGP)
disproportionate dwarf  (IAGP)
distended abdomen  (IAGP)
distended urinary bladder  (IAGP)
domed cranium  (IAGP)
dry skin  (IAGP)
early eyelid opening  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
embryonic lethality prior to organogenesis  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
enlarged spleen  (IAGP)
extramedullary hematopoiesis  (IAGP)
failure of Mullerian duct regression  (IAGP)
female infertility  (IAGP)
hair follicle degeneration  (IAGP)
head tilt  (IAGP)
head tossing  (IAGP)
heart hypoplasia  (IAGP)
hunched posture  (IAGP)
hydroureter  (IAGP)
hyperactivity  (IAGP)
impaired cranial neural crest cell differentiation  (IAGP)
impaired righting response  (IAGP)
impaired skin barrier function  (IAGP)
impaired swimming  (IAGP)
impaired ureteric peristalsis  (IAGP)
increased bone marrow cell number  (IAGP)
increased circulating interleukin-17 level  (IAGP)
increased hair follicle apoptosis  (IAGP)
increased hemoglobin content  (IAGP)
increased IgE level  (IAGP)
increased incidence of tumors by chemical induction  (IAGP)
increased interleukin-17 secretion  (IAGP)
increased leukocyte cell number  (IAGP)
increased macrophage cell number  (IAGP)
increased neutrophil cell number  (IAGP)
increased pruritus  (IAGP)
increased spleen red pulp amount  (IAGP)
increased T-helper 1 cell number  (IAGP)
increased T-helper 17 cell number  (IAGP)
increased T-helper 2 cell number  (IAGP)
increased trunk neural crest cell apoptosis  (IAGP)
increased vascular endothelial cell number  (IAGP)
increased width of hypertrophic chondrocyte zone  (IAGP)
kinked tail  (IAGP)
kyphosis  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
lumbar vertebral fusion  (IAGP)
lung cyst  (IAGP)
mandibular condyloid process hypoplasia  (IAGP)
meteorism  (IAGP)
micrognathia  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
neonatal lethality, incomplete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
nonsyndromic hearing impairment  (IAGP)
osteoporosis  (IAGP)
pancreatic islet hyperplasia  (IAGP)
pericardial edema  (IAGP)
perinatal lethality  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
positive geotaxis  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature bone ossification  (IAGP)
premature death  (IAGP)
premature endochondral bone ossification  (IAGP)
prenatal lethality, complete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
primary sex reversal  (IAGP)
reduced male fertility  (IAGP)
respiratory distress  (IAGP)
rib fusion  (IAGP)
scapular bone hypoplasia  (IAGP)
sex reversal  (IAGP)
short femur  (IAGP)
short humerus  (IAGP)
short limbs  (IAGP)
short mandible  (IAGP)
short maxilla  (IAGP)
short radius  (IAGP)
short snout  (IAGP)
short sternum  (IAGP)
short tail  (IAGP)
short ulna  (IAGP)
shortened head  (IAGP)
small lung  (IAGP)
small mandible  (IAGP)
small mandibular condyloid process  (IAGP)
small pubis  (IAGP)
small scala tympani  (IAGP)
small scapula  (IAGP)
small thoracic cage  (IAGP)
thick epidermis  (IAGP)
thick heart valve cusps  (IAGP)
thick interventricular septum  (IAGP)
thrombocytosis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Foster JW, etal., Nature. 1994 Dec 8;372(6506):525-30.
2. MGDs mouse GO annotations MGD data from the GO Consortium
3. MGD IEA MGD IEA
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Sox9 expression during fracture repair. Shintaku Y, etal., Cells Tissues Organs. 2011;194(1):38-48. doi: 10.1159/000322557. Epub 2011 Jan 22.
8. SOX9 dependent FOXA1 expression promotes tumorigenesis in lung carcinoma. Wang X, etal., Biochem Biophys Res Commun. 2019 Aug 13;516(1):236-244. doi: 10.1016/j.bbrc.2019.05.169. Epub 2019 Jun 17.
Additional References at PubMed
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