Shh (sonic hedgehog) - Rat Genome Database

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Gene: Shh (sonic hedgehog) Mus musculus
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Symbol: Shh
Name: sonic hedgehog
RGD ID: 736830
MGI Page MGI
Description: Exhibits glycosaminoglycan binding activity; laminin-1 binding activity; and patched binding activity. Involved in several processes, including animal organ development; positive regulation of cell differentiation; and positive regulation of cell population proliferation. Localizes to several cellular components, including cell surface; extracellular space; and membrane raft. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study brachydactyly type A1 and holoprosencephaly 3. Human ortholog(s) of this gene implicated in several diseases, including Hirschsprung's disease; holoprosencephaly (multiple); hypoplastic or aplastic tibia with polydactyly; middle cerebral artery infarction; and polydactyly. Orthologous to human SHH (sonic hedgehog signaling molecule); PARTICIPATES IN Hedgehog signaling pathway; altered Hedgehog signaling pathway; forkhead class A signaling pathway; INTERACTS WITH 1,1-dichloroethene; 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 9530036O11Rik; Dsh; hemimelic extra toes; HHG-1; Hhg1; Hx; Hxl3; M100081; shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; ShhNC; short digits; sonic hedgehog protein
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39528,661,838 - 28,672,099 (-)NCBIGRCm39mm39
GRCm39 Ensembl528,661,813 - 28,672,254 (-)Ensembl
GRCm38528,456,840 - 28,467,101 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl528,456,815 - 28,467,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv37528,783,380 - 28,793,641 (-)NCBIGRCm37mm9NCBIm37
MGSCv36528,787,627 - 28,797,875 (-)NCBImm8
Celera525,997,895 - 26,008,156 (-)NCBICelera
Cytogenetic Map5B1NCBI
cM Map514.39NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acrocallosal syndrome  (ISO)
Anorectal Malformations  (ISO)
atrioventricular septal defect  (IMP)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
basal cell carcinoma  (ISO)
biliary atresia  (ISO)
brachydactyly type A1  (IEA,IEP)
chronic kidney disease  (IEP,ISO)
cleft palate  (IGI)
Congenital Limb Deformities  (IMP)
demyelinating disease  (IEP)
esophageal atresia/tracheoesophageal fistula  (ISO)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (IEP,ISO)
Eye Abnormalities  (ISO)
Facial Dysmorphism with Multiple Malformations  (ISO)
Fluoride Poisoning  (ISO)
focal segmental glomerulosclerosis  (ISO)
genetic disease  (ISO)
hepatocellular carcinoma  (ISO)
Hirschsprung's disease  (ISO)
holoprosencephaly  (IEP,ISO)
holoprosencephaly 3  (IEA,ISO)
Hyperoxic Lung Injury  (ISO)
hypoplastic or aplastic tibia with polydactyly  (ISO)
hypothyroidism  (ISO)
IgA glomerulonephritis  (ISO)
Isolated Microphthalmia with Coloboma 5  (ISO)
Kidney Reperfusion Injury  (IEP)
membranous glomerulonephritis  (ISO)
microphthalmia  (ISO)
middle cerebral artery infarction  (ISO)
multiple sclerosis  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
nevoid basal cell carcinoma syndrome  (IMP)
ocular hypertension  (ISO)
pancreatic cancer  (ISO)
Parkinsonism  (ISO)
Patterson Stevenson Syndrome  (ISO)
Peripheral Nerve Injuries  (ISO)
Persistent Cloaca  (IMP,ISO)
polydactyly  (IEP,ISO)
Preaxial Polydactyly II  (ISO)
primary progressive multiple sclerosis  (ISO)
Schizencephaly  (ISO)
secondary Parkinson disease  (ISO)
solitary median maxillary central incisor  (ISO)
Spinal Cord Injuries  (ISO)
Subarachnoid Hemorrhage  (ISO)
syndactyly type 4  (ISO)
temporal lobe epilepsy  (ISO)
ureteral obstruction  (IEP)
VACTERL association  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,1-dichloroethene  (EXP)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (EXP)
5-fluorouracil  (EXP,ISO)
Ac-Ser-Asp-Lys-Pro-OH  (ISO)
actinomycin D  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
ammonium chloride  (ISO)
apomorphine  (ISO)
Aroclor 1254  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzylpenicillin  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (EXP,ISO)
captopril  (ISO)
carbon nanotube  (EXP)
chloroprene  (EXP)
chromium(6+)  (EXP,ISO)
cisplatin  (ISO)
Cyclopamine  (EXP,ISO)
D-glucose  (EXP,ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
ethanol  (EXP)
Ethylenethiourea  (ISO)
flavonoids  (ISO)
folic acid  (EXP,ISO)
gemcitabine  (ISO)
genistein  (EXP)
glucose  (EXP,ISO)
hydrogen peroxide  (ISO)
ipriflavone  (EXP,ISO)
isotretinoin  (ISO)
lansoprazole  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (EXP)
melittin  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
N-ethyl-N-nitrosourea  (EXP)
nitrofen  (ISO)
Nor-9-carboxy-delta9-THC  (ISO)
ochratoxin A  (ISO)
oxidopamine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctanoic acid  (ISO)
phenytoin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
resveratrol  (ISO)
saccharin  (EXP)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP)
tetramethylpyrazine  (EXP)
thyroxine  (ISO)
titanium dioxide  (EXP)
tofacitinib  (ISO)
tolnaftate  (EXP,ISO)
trans-piceid  (EXP)
triadimefon  (ISO)
triptonide  (ISO)
udenafil  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (EXP)
vismodegib  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure development  (IMP)
anatomical structure formation involved in morphogenesis  (IMP)
androgen metabolic process  (IMP)
angiogenesis  (IDA,IGI,IMP)
animal organ formation  (IMP)
anterior/posterior pattern specification  (IMP)
apoptotic signaling pathway  (IDA)
artery development  (IGI,IMP)
axon guidance  (IDA,IMP)
Bergmann glial cell differentiation  (IDA)
blood coagulation  (IMP)
branching involved in blood vessel morphogenesis  (IMP)
branching involved in prostate gland morphogenesis  (IDA)
branching involved in salivary gland morphogenesis  (IGI,IMP)
branching involved in ureteric bud morphogenesis  (IMP)
branching morphogenesis of an epithelial tube  (IMP)
bud outgrowth involved in lung branching  (IMP)
camera-type eye development  (IDA,IGI,IMP)
canonical Wnt signaling pathway  (IDA)
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  (IMP,ISO)
cell development  (IMP)
cell fate commitment  (IGI)
cell fate specification  (IBA,IDA,IGI,IMP)
cell population proliferation  (IGI)
cell proliferation in external granule layer  (IDA)
cell-cell signaling  (IMP)
cellular response to lithium ion  (IDA)
central nervous system development  (IMP)
cerebellar granule cell precursor proliferation  (IDA,IGI)
commissural neuron axon guidance  (ISO)
determination of left/right asymmetry in lateral mesoderm  (IMP)
determination of left/right symmetry  (IMP)
developmental growth  (IMP)
digestive tract mesoderm development  (ISO)
digestive tract morphogenesis  (IMP)
dopaminergic neuron differentiation  (TAS)
dorsal/ventral neural tube patterning  (IDA,IGI,IMP)
dorsal/ventral pattern formation  (IGI)
ectoderm development  (IMP)
embryonic digestive tract morphogenesis  (IMP,TAS)
embryonic digit morphogenesis  (IGI,IMP)
embryonic foregut morphogenesis  (IMP)
embryonic forelimb morphogenesis  (IMP)
embryonic hindlimb morphogenesis  (IMP)
embryonic limb morphogenesis  (IGI,IMP)
embryonic morphogenesis  (IMP)
embryonic organ development  (IMP)
embryonic skeletal system development  (IGI)
endocytosis  (IDA)
epithelial cell proliferation involved in salivary gland morphogenesis  (IMP)
epithelial tube branching involved in lung morphogenesis  (IMP,ISO)
epithelial-mesenchymal cell signaling  (IMP)
epithelial-mesenchymal signaling involved in prostate gland development  (IGI,ISO)
establishment of cell polarity  (IDA)
forebrain development  (IGI)
forebrain regionalization  (IMP)
formation of anatomical boundary  (IMP)
fungiform papilla development  (ISO)
fungiform papilla formation  (ISO)
fungiform papilla morphogenesis  (ISO)
hair follicle development  (IMP)
hair follicle morphogenesis  (IMP)
heart development  (IMP)
heart looping  (IMP)
hindbrain development  (IGI,IMP)
hindgut morphogenesis  (IMP)
inner ear development  (IGI,IMP)
intein-mediated protein splicing  (IEA)
intermediate filament organization  (IMP)
kidney development  (IMP)
left lung development  (IMP)
limb bud formation  (IMP)
limb development  (IGI,IMP)
liver regeneration  (ISO)
lung development  (IGI,IMP)
lung epithelium development  (IMP)
lung lobe morphogenesis  (IMP)
lung morphogenesis  (IMP)
lung-associated mesenchyme development  (IMP)
lymphoid progenitor cell differentiation  (IMP,ISO)
male genitalia development  (IMP)
male genitalia morphogenesis  (ISO)
mesenchymal cell proliferation  (IMP)
mesenchymal cell proliferation involved in lung development  (IDA)
mesenchymal smoothened signaling pathway involved in prostate gland development  (IMP)
metanephric collecting duct development  (ISO)
metanephric mesenchymal cell proliferation involved in metanephros development  (IMP)
metanephros development  (IMP)
midbrain development  (IGI)
multicellular organism development  (IEA)
myoblast differentiation  (IDA)
myotube differentiation  (IMP)
negative regulation of alpha-beta T cell differentiation  (IMP)
negative regulation of apoptotic process  (IDA,IGI,IMP,ISO)
negative regulation of canonical Wnt signaling pathway  (IMP)
negative regulation of cell differentiation  (IDA,IMP)
negative regulation of cell migration  (IDA)
negative regulation of cholesterol efflux  (IMP)
negative regulation of dopaminergic neuron differentiation  (IMP)
negative regulation of gene expression  (IMP)
negative regulation of kidney smooth muscle cell differentiation  (IDA)
negative regulation of mesenchymal cell apoptotic process  (IMP)
negative regulation of neuron death  (ISO)
negative regulation of proteasomal ubiquitin-dependent protein catabolic process  (IMP)
negative regulation of protein catabolic process  (IMP)
negative regulation of T cell proliferation  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA,IMP)
negative regulation of transcription elongation from RNA polymerase II promoter  (IDA)
negative regulation of ureter smooth muscle cell differentiation  (IDA)
negative regulation of Wnt signaling pathway  (IDA)
negative thymic T cell selection  (IMP)
neural crest cell migration  (IMP)
neural tube formation  (ISO)
neuroblast proliferation  (IDA)
neuron fate commitment  (IMP)
odontogenesis  (IDA)
odontogenesis of dentin-containing tooth  (IMP)
oligodendrocyte development  (IDA)
oligodendrocyte differentiation  (IBA,IGI)
osteoblast development  (IDA)
pancreas development  (IGI,IMP)
pattern specification process  (IGI,IMP)
polarity specification of anterior/posterior axis  (IMP)
positive regulation of alpha-beta T cell differentiation  (IMP)
positive regulation of cell differentiation  (IMP)
positive regulation of cell division  (ISO)
positive regulation of cell population proliferation  (IDA,IGI,IMP,ISO)
positive regulation of cerebellar granule cell precursor proliferation  (IDA)
positive regulation of endothelial cell chemotaxis  (ISO)
positive regulation of epithelial cell proliferation involved in prostate gland development  (IMP)
positive regulation of gene expression  (IMP)
positive regulation of hh target transcription factor activity  (IDA,IGI,IMP)
positive regulation of immature T cell proliferation in thymus  (IMP)
positive regulation of kidney smooth muscle cell differentiation  (IDA)
positive regulation of mesenchymal cell proliferation  (IMP)
positive regulation of mesenchymal cell proliferation involved in ureter development  (IMP)
positive regulation of neuroblast proliferation  (IDA,ISO)
positive regulation of neuron differentiation  (ISO)
positive regulation of neurotrophin production  (ISO)
positive regulation of oligodendrocyte differentiation  (IDA)
positive regulation of oligodendrocyte progenitor proliferation  (ISO)
positive regulation of penile erection  (ISO)
positive regulation of photoreceptor cell differentiation  (ISO)
positive regulation of protein import into nucleus  (IGI)
positive regulation of sclerotome development  (ISO)
positive regulation of skeletal muscle cell proliferation  (IMP)
positive regulation of skeletal muscle tissue development  (IMP)
positive regulation of smoothened signaling pathway  (IMP,ISO)
positive regulation of sprouting angiogenesis  (ISO)
positive regulation of striated muscle cell differentiation  (IMP)
positive regulation of T cell differentiation in thymus  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP)
positive regulation of transcription, DNA-templated  (IDA,ISO)
positive regulation of ureter smooth muscle cell differentiation  (IMP)
positive regulation of Wnt signaling pathway  (IMP)
positive thymic T cell selection  (IMP)
primary prostatic bud elongation  (IDA)
prostate epithelial cord elongation  (IDA)
prostate gland development  (IMP,ISO)
prostatic bud formation  (IGI)
protein autoprocessing  (IEA)
protein localization to nucleus  (IDA)
proteolysis  (IEA)
regulation of cell population proliferation  (IDA,ISO)
regulation of epithelial cell differentiation  (ISO)
regulation of epithelial cell proliferation involved in prostate gland development  (IMP)
regulation of gene expression  (IBA,IDA,IGI,IMP,ISO)
regulation of mesenchymal cell proliferation involved in prostate gland development  (IMP)
regulation of odontogenesis  (IMP)
regulation of prostatic bud formation  (IDA,IMP)
regulation of protein localization to nucleus  (ISO)
regulation of proteolysis  (IDA)
regulation of transcription, DNA-templated  (IMP)
respiratory tube development  (IMP)
response to axon injury  (ISO)
response to estradiol  (ISO)
response to ethanol  (ISO)
response to hypoxia  (ISO)
response to organonitrogen compound  (ISO)
response to retinoic acid  (ISO)
right lung development  (IMP)
roof of mouth development  (IMP)
salivary gland cavitation  (IDA)
signal transduction  (TAS)
skin development  (IMP)
smooth muscle tissue development  (ISO)
smoothened signaling pathway  (IBA,IDA,IGI,IMP,ISO)
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation  (IDA,IMP)
somite development  (IMP)
spinal cord dorsal/ventral patterning  (IMP,ISO)
spinal cord motor neuron differentiation  (IGI)
stem cell development  (IMP)
striated muscle cell differentiation  (IDA,IMP)
striated muscle tissue development  (IMP)
T cell differentiation in thymus  (IMP)
telencephalon regionalization  (IMP,ISO)
thalamus development  (IGI,IMP)
thymus development  (IMP)
thyroid gland development  (IMP)
tongue development  (ISO)
tongue morphogenesis  (ISO)
trachea development  (IMP)
trachea morphogenesis  (IMP)
tracheoesophageal septum formation  (IMP)
vasculature development  (IMP)
vasculogenesis  (IDA)
vasculogenesis involved in coronary vascular morphogenesis  (TAS)
ventral spinal cord interneuron specification  (ISO)
zona limitans intrathalamica formation  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal adrenal gland morphology  (IAGP)
abnormal adrenal gland physiology  (IAGP)
abnormal adrenocortical cell morphology  (IAGP)
abnormal airway basal cell morphology  (IAGP)
abnormal aldosterone level  (IAGP)
abnormal ameloblast morphology  (IAGP)
abnormal artery morphology  (IAGP)
abnormal arytenoid cartilage morphology  (IAGP)
abnormal astrocyte morphology  (IAGP)
abnormal atrium myocardium morphology  (IAGP)
abnormal autopod morphology  (IAGP)
abnormal axial skeleton morphology  (IAGP)
abnormal brain interneuron morphology  (IAGP)
abnormal branching involved in lung morphogenesis  (IAGP)
abnormal bronchiole epithelium morphology  (IAGP)
abnormal bronchus morphology  (IAGP)
abnormal cardiac outflow tract development  (IAGP)
abnormal cardiovascular system morphology  (IAGP)
abnormal carpal bone morphology  (IAGP)
abnormal cartilage development  (IAGP)
abnormal cartilage morphology  (IAGP)
abnormal cell differentiation  (IAGP)
abnormal cell physiology  (IAGP)
abnormal cerebellar granule cell morphology  (IAGP)
abnormal cerebellar granule layer morphology  (IAGP)
abnormal cerebellar lobule formation  (IAGP)
abnormal cerebellar molecular layer  (IAGP)
abnormal cerebellar Purkinje cell layer  (IAGP)
abnormal cerebellum development  (IAGP)
abnormal cerebellum external granule cell layer morphology  (IAGP)
abnormal cerebellum morphology  (IAGP)
abnormal cerebral hemisphere morphology  (IAGP)
abnormal chondrocyte differentiation  (IAGP)
abnormal choroid plexus morphology  (IAGP)
abnormal clavicle morphology  (IAGP)
abnormal colon morphology  (IAGP)
abnormal corpus callosum morphology  (IAGP)
abnormal craniofacial bone morphology  (IAGP)
abnormal craniofacial morphology  (IAGP)
abnormal cranium morphology  (IAGP)
abnormal cystic duct morphology  (IAGP)
abnormal dentin morphology  (IAGP)
abnormal dermal layer morphology  (IAGP)
abnormal dermis papillary layer morphology  (IAGP)
abnormal diencephalon morphology  (IAGP)
abnormal digestive organ placement  (IAGP)
abnormal digestive system morphology  (IAGP)
abnormal digit morphology  (IAGP)
abnormal dorsal-ventral axis patterning  (IAGP)
abnormal duodenum morphology  (IAGP)
abnormal ear morphology  (IAGP)
abnormal embryo development  (IAGP)
abnormal embryo size  (IAGP)
abnormal embryo turning  (IAGP)
abnormal embryonic autopod plate morphology  (IAGP)
abnormal embryonic/fetal subventricular zone morphology  (IAGP)
abnormal enamel morphology  (IAGP)
abnormal enteric neuron morphology  (IAGP)
abnormal esophageal epithelium morphology  (IAGP)
abnormal esophagus morphology  (IAGP)
abnormal eye development  (IAGP)
abnormal eye morphology  (IAGP)
abnormal eyelid morphology  (IAGP)
abnormal facial morphology  (IAGP)
abnormal floor plate morphology  (IAGP)
abnormal forebrain morphology  (IAGP)
abnormal foregut morphology  (IAGP)
abnormal forelimb zeugopod morphology  (IAGP)
abnormal forestomach morphology  (IAGP)
abnormal frontal bone morphology  (IAGP)
abnormal frontonasal prominence morphology  (IAGP)
abnormal gait  (IAGP)
abnormal gallbladder smooth muscle morphology  (IAGP)
abnormal gastric surface mucous cell morphology  (IAGP)
abnormal genital tubercle morphology  (IAGP)
abnormal glial cell morphology  (IAGP)
abnormal hair follicle development  (IAGP)
abnormal hair follicle morphology  (IAGP)
abnormal hair follicle orientation  (IAGP)
abnormal hair shaft morphology  (IAGP)
abnormal heart left atrium morphology  (IAGP)
abnormal heart morphology  (IAGP)
abnormal heart tube morphology  (IAGP)
abnormal hindlimb morphology  (IAGP)
abnormal hindlimb zeugopod morphology  (IAGP)
abnormal hippocampus development  (IAGP)
abnormal humerus morphology  (IAGP)
abnormal incisor morphology  (IAGP)
abnormal innervation  (IAGP)
abnormal interparietal bone morphology  (IAGP)
abnormal intervertebral disk morphology  (IAGP)
abnormal ischium morphology  (IAGP)
abnormal joint morphology  (IAGP)
abnormal kidney inner medulla morphology  (IAGP)
abnormal kidney morphology  (IAGP)
abnormal kidney outer medulla inner stripe morphology  (IAGP)
abnormal lateral ganglionic eminence morphology  (IAGP)
abnormal limb bone morphology  (IAGP)
abnormal limb bud morphology  (IAGP)
abnormal limb development  (IAGP)
abnormal limb morphology  (IAGP)
abnormal liver development  (IAGP)
abnormal long bone morphology  (IAGP)
abnormal lower incisor morphology  (IAGP)
abnormal lung development  (IAGP)
abnormal lung epithelium morphology  (IAGP)
abnormal lung lobe morphology  (IAGP)
abnormal lung morphology  (IAGP)
abnormal lung saccule morphology  (IAGP)
abnormal lung vasculature morphology  (IAGP)
abnormal lung-associated mesenchyme development  (IAGP)
abnormal maxilla morphology  (IAGP)
abnormal maxillary prominence morphology  (IAGP)
abnormal maxillary shelf morphology  (IAGP)
abnormal medial ganglionic eminence morphology  (IAGP)
abnormal medial nasal prominence morphology  (IAGP)
abnormal midbrain morphology  (IAGP)
abnormal molar cusp morphology  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal motor neuron morphology  (IAGP)
abnormal nasal bone morphology  (IAGP)
abnormal nasal pit morphology  (IAGP)
abnormal nervous system morphology  (IAGP)
abnormal neural crest cell apoptosis  (IAGP)
abnormal neural crest cell migration  (IAGP)
abnormal neural tube morphology  (IAGP)
abnormal neurocranium morphology  (IAGP)
abnormal neuron differentiation  (IAGP)
abnormal neuron specification  (IAGP)
abnormal nose morphology  (IAGP)
abnormal odontoblast morphology  (IAGP)
abnormal optic cup morphology  (IAGP)
abnormal optic nerve morphology  (IAGP)
abnormal optic stalk morphology  (IAGP)
abnormal optic vesicle formation  (IAGP)
abnormal orbit morphology  (IAGP)
abnormal otic vesicle development  (IAGP)
abnormal outer ear morphology  (IAGP)
abnormal palatal rugae morphology  (IAGP)
abnormal palatal shelf fusion at midline  (IAGP)
abnormal parietal bone morphology  (IAGP)
abnormal pectoral girdle bone morphology  (IAGP)
abnormal pelvic girdle bone morphology  (IAGP)
abnormal phalanx morphology  (IAGP)
abnormal pharynx morphology  (IAGP)
abnormal physiological neovascularization  (IAGP)
abnormal posterior semicircular canal morphology  (IAGP)
abnormal postnatal subventricular zone morphology  (IAGP)
abnormal prenatal growth/weight/body size  (IAGP)
abnormal primitive urogenital sinus morphology  (IAGP)
abnormal pubis morphology  (IAGP)
abnormal pulmonary artery morphology  (IAGP)
abnormal pulmonary vein morphology  (IAGP)
abnormal renal glomerulus morphology  (IAGP)
abnormal reproductive system development  (IAGP)
abnormal reproductive system physiology  (IAGP)
abnormal respiratory conducting tube morphology  (IAGP)
abnormal respiratory epithelium morphology  (IAGP)
abnormal respiratory epithelium physiology  (IAGP)
abnormal respiratory motile cilium morphology  (IAGP)
abnormal respiratory system development  (IAGP)
abnormal respiratory system morphology  (IAGP)
abnormal retina morphology  (IAGP)
abnormal retinal ganglion cell morphology  (IAGP)
abnormal rib morphology  (IAGP)
abnormal rostral-caudal body axis extension  (IAGP)
abnormal scapula morphology  (IAGP)
abnormal skeleton morphology  (IAGP)
abnormal skin morphology  (IAGP)
abnormal small intestine morphology  (IAGP)
abnormal smooth muscle morphology  (IAGP)
abnormal somite shape  (IAGP)
abnormal spinal cord interneuron morphology  (IAGP)
abnormal spinal cord lateral motor column morphology  (IAGP)
abnormal spinal cord morphology  (IAGP)
abnormal stomach glandular epithelium morphology  (IAGP)
abnormal stomach pH  (IAGP)
abnormal submandibular gland morphology  (IAGP)
abnormal superior semicircular canal morphology  (IAGP)
abnormal synaptic dopamine release  (IAGP)
abnormal tail development  (IAGP)
abnormal tarsal bone morphology  (IAGP)
abnormal telencephalon development  (IAGP)
abnormal telencephalon morphology  (IAGP)
abnormal temporal bone squamous part morphology  (IAGP)
abnormal trachea morphology  (IAGP)
abnormal tracheal cartilage morphology  (IAGP)
abnormal tracheal ciliated epithelium morphology  (IAGP)
abnormal tracheal smooth muscle morphology  (IAGP)
abnormal ureter development  (IAGP)
abnormal ureter smooth muscle morphology  (IAGP)
abnormal urethra urothelium morphology  (IAGP)
abnormal vascular smooth muscle morphology  (IAGP)
abnormal vasculogenesis  (IAGP)
abnormal ventral tubercle of atlas morphology  (IAGP)
abnormal vertebrae morphology  (IAGP)
abnormal vertebral body morphology  (IAGP)
abnormal visceral yolk sac mesenchyme morphology  (IAGP)
abnormal visceral yolk sac morphology  (IAGP)
abnormal xiphoid process morphology  (IAGP)
absent alveolar process  (IAGP)
absent cartilage  (IAGP)
absent cerebellar lobules  (IAGP)
absent club cells  (IAGP)
absent corpus callosum  (IAGP)
absent deltoid tuberosity  (IAGP)
absent diencephalon  (IAGP)
absent enamel cord  (IAGP)
absent endolymphatic duct  (IAGP)
absent external female genitalia  (IAGP)
absent external male genitalia  (IAGP)
absent fibula  (IAGP)
absent floor plate  (IAGP)
absent forelimb  (IAGP)
absent hair follicle inner root sheath  (IAGP)
absent hair follicles  (IAGP)
absent hindlimb  (IAGP)
absent lateral semicircular canal  (IAGP)
absent lung buds  (IAGP)
absent lungs  (IAGP)
absent mandible  (IAGP)
absent mouth  (IAGP)
absent nasal bone  (IAGP)
absent nasal septum  (IAGP)
absent notochord  (IAGP)
absent olfactory bulb  (IAGP)
absent olfactory epithelium  (IAGP)
absent parietal bone  (IAGP)
absent philtrum  (IAGP)
absent premaxilla  (IAGP)
absent pulmonary vein  (IAGP)
absent scala media  (IAGP)
absent tibia  (IAGP)
absent tongue  (IAGP)
absent tracheal cartilage rings  (IAGP)
absent utricle  (IAGP)
absent vertebrae  (IAGP)
absent vestibular saccule  (IAGP)
absent vestibulocochlear ganglion  (IAGP)
absent vibrissae  (IAGP)
absent vitelline blood vessels  (IAGP)
acephaly  (IAGP)
adactyly  (IAGP)
aerophagia  (IAGP)
alopecia  (IAGP)
anal atresia  (IAGP)
annular pancreas  (IAGP)
anophthalmia  (IAGP)
aphakia  (IAGP)
arrest of tooth development  (IAGP)
ataxia  (IAGP)
bowed fibula  (IAGP)
bowed tibia  (IAGP)
brachydactyly  (IAGP)
brachyphalangia  (IAGP)
cardiac edema  (IAGP)
cerebellum hypoplasia  (IAGP)
cervical vertebral fusion  (IEA)
cleft secondary palate  (IAGP)
cyclopia  (IAGP)
decreased birth body size  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased bone mineral content  (IEA)
decreased brain size  (IAGP)
decreased brain weight  (IAGP)
decreased cell migration  (IAGP)
decreased cell proliferation  (IAGP)
decreased chondrocyte proliferation  (IAGP)
decreased circulating corticosterone level  (IAGP)
decreased club cell number  (IAGP)
decreased dopamine level  (IAGP)
decreased embryo size  (IAGP)
decreased fetal size  (IAGP)
decreased keratinocyte proliferation  (IAGP)
decreased lean body mass  (IEA)
decreased midbrain size  (IAGP)
decreased motor neuron number  (IAGP)
decreased neuron number  (IAGP)
decreased neuronal precursor cell number  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased renal glomerulus number  (IAGP)
decreased respiratory mucosa goblet cell number  (IAGP)
decreased rib number  (IAGP)
decreased somite size  (IAGP)
decreased spinal cord size  (IAGP)
decreased tracheal cartilage ring number  (IAGP)
delayed wound healing  (IAGP)
disorganized thalamus  (IAGP)
edema  (IAGP)
embryonic growth arrest  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
enlarged adrenocortical cells  (IAGP)
enlarged brain ventricles  (IAGP)
enlarged lung  (IAGP)
enlarged pericardium  (IAGP)
epidermal hyperplasia  (IAGP)
epiglottis hypoplasia  (IAGP)
exencephaly  (IAGP)
eyelids open at birth  (IAGP)
failure of heart looping  (IAGP)
failure of initiation of embryo turning  (IAGP)
fetal growth retardation  (IAGP)
frontonasal prominence hypoplasia  (IAGP)
fused joints  (IAGP)
fusion of atlas and odontoid process  (IAGP)
gastric metaplasia  (IAGP)
growth retardation of incisors  (IAGP)
growth retardation of molars  (IAGP)
hemimelia  (IAGP)
hindlimb paralysis  (IAGP)
holoprosencephaly  (IAGP)
hydronephrosis  (IAGP)
hydroureter  (IAGP)
hyperactivity  (IAGP)
hypoactivity  (IAGP)
impaired branching involved in bronchus morphogenesis  (IAGP)
impaired glucose tolerance  (IEA)
impaired lung lobe morphogenesis  (IAGP)
impaired myofibroblast differentiation  (IAGP)
increased apoptosis  (IAGP)
increased circulating adrenocorticotropin level  (IAGP)
increased circulating cholesterol level  (IEA)
increased circulating HDL cholesterol level  (IEA)
increased dopamine level  (IAGP)
increased forebrain size  (IAGP)
increased lung apoptosis  (IAGP)
increased mesenchymal cell proliferation involved in lung development  (IAGP)
increased midbrain size  (IAGP)
increased neuron number  (IAGP)
increased neuronal precursor cell number  (IAGP)
increased solitary pulmonary neuroendocrine cell number  (IAGP)
increased total body fat amount  (IEA)
kidney cortex hypoplasia  (IAGP)
kidney medulla hypoplasia  (IAGP)
left pulmonary isomerism  (IAGP)
lethality throughout fetal growth and development, incomplete penetrance  (IAGP)
loss of dopaminergic neurons  (IAGP)
lung cysts  (IAGP)
lung inflammation  (IAGP)
mandible hypoplasia  (IAGP)
megacephaly  (IAGP)
microcephaly  (IAGP)
microphthalmia  (IAGP)
neonatal lethality  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
notochord degeneration  (IAGP)
occipital bone foramen  (IAGP)
ocular hypotelorism  (IAGP)
olfactory bulb hypoplasia  (IAGP)
oligodactyly  (IAGP)
open neural tube  (IAGP)
palatal shelf hypoplasia  (IAGP)
palatal shelves fail to meet at midline  (IAGP)
perinatal lethality  (IAGP)
perinatal lethality, complete penetrance  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
persistent truncus arteriosis  (IAGP)
polydactyly  (IAGP)
polyphalangy  (IAGP)
postaxial polydactyly  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
preaxial polydactyly  (IAGP)
premature death  (IAGP)
premature neuronal precursor differentiation  (IAGP)
prenatal lethality  (IAGP)
prenatal lethality, incomplete penetrance  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
proboscis  (IAGP)
pulmonary hypoplasia  (IAGP)
renal hypoplasia  (IAGP)
respiratory distress  (IAGP)
respiratory failure  (IAGP)
seizures  (IAGP)
short fibula  (IAGP)
short limbs  (IAGP)
short mandible  (IAGP)
short metacarpal bones  (IAGP)
short snout  (IAGP)
short tibia  (IAGP)
short ureter  (IAGP)
single external naris  (IAGP)
slow postnatal weight gain  (IAGP)
small adrenal glands  (IAGP)
small cerebellum  (IAGP)
small gallbladder  (IAGP)
small incisors  (IAGP)
small kidney  (IAGP)
small lung  (IAGP)
small lung lobe  (IAGP)
small molars  (IAGP)
small olfactory bulb  (IAGP)
small snout  (IAGP)
small stomach  (IAGP)
spina bifida  (IAGP)
stomach epithelial hyperplasia  (IAGP)
syndactyly  (IAGP)
synostosis  (IAGP)
thick epidermis  (IAGP)
thin adrenal cortex  (IAGP)
thin epidermis  (IAGP)
thin external granule cell layer  (IAGP)
thin interparietal bone  (IAGP)
trachea stenosis  (IAGP)
tracheoesophageal fistula  (IAGP)
References

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Additional References at PubMed
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