About   Help   FAQ
Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Shh
sonic hedgehog
MGI:98297
309 phenotypes from 16 alleles in 25 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background		 Annotated Term Reference
Olig2tm1(cre)Tmj/Olig2+
Shhtm2Amc/Shhtm2Amc
involves: 129S1/Sv * 129X1/SvJ 		abnormal spinal cord lateral motor column morphology J:277700
decreased motor neuron number J:277700
normal nervous system phenotype J:277700
Shhtm1(cre/ERT2)Tshim/Shhtm1(cre/ERT2)Tshim
Not Specified 		no abnormal phenotype detected J:171106
Shhtm1(EGFP/cre)Cjt/Shhtm1(EGFP/cre)Cjt
Not Specified 		abnormal atrium myocardium morphology J:204743
abnormal cystic duct morphology J:241569
abnormal gallbladder smooth muscle morphology J:241569
abnormal heart left atrium morphology J:204743
abnormal limb bone morphology J:92504
abnormal liver development J:241569
abnormal pulmonary artery morphology J:204743
abnormal respiratory conducting tube morphology J:204743
abnormal vascular smooth muscle morphology J:204743
abnormal vasculogenesis J:204743
absent pulmonary vein J:204743
acephaly J:241569
small gallbladder J:241569
Shhtm1(EGFP/cre)Cjt/Shhtm2Amc
involves: 129/Sv * C57BL/6J * SWR 		abnormal neural tube morphology J:94270
cyclopia J:94270
Shhtm1.1Rseg/Shhtm1.1Rseg
involves: 129S4/SvJae * C57BL/6 		abnormal cerebellum external granule cell layer morphology J:150524
abnormal embryonic/fetal subventricular zone morphology J:150524
abnormal postnatal subventricular zone morphology J:150524
cerebellum hypoplasia J:150524
decreased body weight J:150524
decreased brain weight J:150524
normal embryo phenotype J:150524
microphthalmia J:150524
small olfactory bulb J:150524
Shhtm1Ahk/Shhtm1Ahk
B6.Cg-Shhtm1Ahk 		no abnormal phenotype detected J:188348
Shhtm1Ahk/Shhtm1Ahk
Slc6a3tm1(cre)Xz/Slc6a3+
involves: 129S1/Sv * C57BL/6 		abnormal gait J:188348
abnormal synaptic dopamine release J:188348
decreased dopamine level J:188348
decreased locomotor activity J:188348
decreased neuron number J:188348
hindlimb paralysis J:188348
hyperactivity J:188348
increased dopamine level J:188348
increased neuron number J:188348
loss of dopaminergic neurons J:188348
premature death J:188348
Shhtm1Amc/Shhtm1.1Rseg
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 		cerebellum hypoplasia J:150524
decreased body weight J:150524
decreased brain weight J:150524
normal embryo phenotype J:150524
microphthalmia J:150524
small olfactory bulb J:150524
Shhtm1Amc/Shhtm1Amc
involves: 129/Sv * C57BL/6J * CBA/J 		abnormal colon morphology J:62158
abnormal dermal layer morphology J:50050
abnormal dermis papillary layer morphology J:50050
abnormal digestive organ placement J:62158
abnormal digestive system morphology J:62158
abnormal duodenum morphology J:62158
abnormal enteric neuron morphology J:62158
abnormal esophagus morphology J:62158
abnormal hair follicle development J:50050
abnormal hair follicle morphology J:50050
abnormal hair follicle orientation J:50050
abnormal hair shaft morphology J:50050
abnormal lung development J:50051
abnormal lung saccule morphology J:50051
abnormal lung vasculature morphology J:50051
abnormal small intestine morphology J:62158
abnormal smooth muscle morphology J:62158
abnormal stomach glandular epithelium morphology J:62158
abnormal tracheal cartilage morphology J:50051
abnormal tracheal smooth muscle morphology J:50051
absent hair follicle inner root sheath J:50050
absent hair follicles J:50050
alopecia J:50050
anal atresia J:62158
annular pancreas J:62158
decreased fetal size J:62158
decreased keratinocyte proliferation J:50051
epidermal hyperplasia J:50050
gastric metaplasia J:62158
impaired branching involved in bronchus morphogenesis J:50051
impaired lung lobe morphogenesis J:50051
perinatal lethality, complete penetrance J:50050
prenatal lethality, incomplete penetrance J:50050
pulmonary hypoplasia J:50051
stomach epithelial hyperplasia J:62158
thick epidermis J:50050
tracheoesophageal fistula J:50051
Shhtm1Amc/Shhtm1Amc
involves: 129S1/Sv * 129X1/SvJ 		abnormal vertebrae morphology J:121553
holoprosencephaly J:121553
notochord degeneration J:121553
Shhtm1Amc/Shhtm1Amc
Not Specified 		abnormal branching involved in lung morphogenesis J:91723
abnormal bronchus morphology J:91723
abnormal pharynx morphology J:91723
absent tracheal cartilage rings J:91723
neonatal lethality, complete penetrance J:91723
pulmonary hypoplasia J:91723
small stomach J:98520
tracheoesophageal fistula J:91723
Shhtm1Amc/Shhtm1Amc
STOCK Shhtm1Amc/J 		abnormal submandibular gland morphology J:89200
Shhtm1Amc/Shhtm2Amc
involves: 129S1/Sv * 129X1/SvJ 		no abnormal phenotype detected J:65294
Shhtm1Amc/Shhtm2Amc
Tg(Hoxb7-cre)13Amc/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal kidney inner medulla morphology J:79481
abnormal kidney outer medulla inner stripe morphology J:79481
abnormal renal glomerulus morphology J:79481
abnormal ureter development J:79481
abnormal ureter smooth muscle morphology J:79481
decreased renal glomerulus number J:79481
hydronephrosis J:79481
hydroureter J:79481
kidney cortex hypoplasia J:79481
kidney medulla hypoplasia J:79481
renal hypoplasia J:79481
short ureter J:79481
small kidney J:79481
Shhtm1Amc/Shhtm2Amc
Tg(KRT14-cre)1Amc/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal ameloblast morphology J:65294
abnormal cranium morphology J:65294
abnormal dentin morphology J:65294
abnormal enamel morphology J:65294
abnormal incisor morphology J:65294
abnormal lower incisor morphology J:65294
abnormal molar cusp morphology J:65294
abnormal nasal bone morphology J:65294
abnormal odontoblast morphology J:65294
abnormal palatal shelf fusion at midline J:90909
absent alveolar process J:65294
absent enamel cord J:65294
absent vibrissae J:65294
aerophagia J:65294
arrest of tooth development J:65294
cleft secondary palate J:90909
eyelids open at birth J:65294
growth retardation of incisors J:65294
growth retardation of molars J:65294
neonatal lethality, complete penetrance J:65294
palatal shelf hypoplasia J:90909
normal skeleton phenotype J:65294
small incisors J:65294
small molars J:65294
Shhtm1Amc/Shhtm2Amc
Tg(SFTPC-rtTA)5Jaw/0
Tg(tetO-cre)1Jaw/0
involves: FVB/N 		abnormal branching involved in lung morphogenesis J:91723
abnormal bronchus morphology J:91723
abnormal lung morphology J:91723
abnormal trachea morphology J:91723
abnormal tracheal cartilage morphology J:91723
decreased tracheal cartilage ring number J:91723
lung cyst J:91723
neonatal lethality, complete penetrance J:91723
pulmonary hypoplasia J:91723
Shhtm1Amc/Shhtm2Amc
Tg(Thy1-cre)703Vaw/?
involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 		abnormal craniofacial morphology J:83530
abnormal eye development J:83530
abnormal eyelid morphology J:83530
abnormal glial cell morphology J:83530
abnormal optic nerve morphology J:83530
abnormal retina ganglion cell morphology J:83530
abnormal retina morphology J:78708
holoprosencephaly J:78708, J:83530
microcephaly J:83530
microphthalmia J:78708, J:83530
neonatal lethality, complete penetrance J:78708
Shhtm1b(EUCOMM)Wtsi/Shh+
C57BL/6N-Shhtm1b(EUCOMM)Wtsi/H 		decreased bone mineral content J:211773
decreased lean body mass J:211773
impaired glucose tolerance J:211773
increased circulating HDL cholesterol level J:211773
increased total body fat amount J:211773
Shhtm1b(EUCOMM)Wtsi/Shhtm1b(EUCOMM)Wtsi
C57BL/6N-Shhtm1b(EUCOMM)Wtsi/H 		preweaning lethality, complete penetrance J:211773
Shhtm1Chg/Shh+
Tg(Shh)#Dje/0
involves: 129S1/Sv * 129X1/SvJ * Swiss Webster 		abnormal cerebellar granule layer morphology J:94461
abnormal cerebellum morphology J:94461
Shhtm1Chg/Shhtm1Chg
involves: 129S1/Sv * 129X1/SvJ 		abnormal axial skeleton morphology J:35802
abnormal craniofacial bone morphology J:35802
abnormal craniofacial morphology J:35802
abnormal dorsal-ventral axis patterning J:35802
abnormal forebrain morphology J:35802
abnormal foregut morphology J:35802
abnormal heart morphology J:35802
abnormal humerus morphology J:35802
abnormal kidney morphology J:35802
abnormal limb development J:159210
abnormal long bone morphology J:35802
abnormal lung morphology J:35802
abnormal motor neuron morphology J:35802
abnormal nasal pit morphology J:35802
abnormal neural tube morphology J:35802
abnormal optic cup morphology J:35802
abnormal optic stalk morphology J:35802
abnormal optic vesicle formation J:35802
abnormal spinal cord interneuron morphology J:73074
abnormal telencephalon morphology J:35802
absent cartilage J:35802
absent diencephalon J:35802
absent fibula J:35802
absent floor plate J:35802, J:73074
absent forelimb J:35802
absent hindlimb J:35802
absent tibia J:35802
absent vertebrae J:35802
adactyly J:35802
cyclopia J:35802, J:73074
decreased brain size J:35802
decreased midbrain size J:35802
decreased motor neuron number J:73074
decreased rib number J:35802
decreased spinal cord size J:35802
fetal growth retardation J:35802
increased apoptosis J:145182
notochord degeneration J:35802
perinatal lethality, incomplete penetrance J:35802
Shhtm1Chg/Shhtm1Chg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal autopod morphology J:199480
abnormal forelimb zeugopod morphology J:199480
abnormal hindlimb zeugopod morphology J:199480
short limbs J:199480
Shhtm1Chg/Shhtm1Chg
involves: 129S1/Sv * 129X1/SvJ * CD-1 		abnormal otic vesicle development J:79100
abnormal posterior semicircular canal morphology J:79100
abnormal superior semicircular canal morphology J:79100
absent endolymphatic duct J:79100
absent lateral semicircular canal J:79100
absent scala media J:79100
absent utricle J:79100
absent vestibular saccule J:79100
absent vestibulocochlear ganglion J:79100
Shhtm1Chg/Shhtm1Chg
involves: C57BL/6 		abnormal dorsal-ventral axis patterning J:89364
abnormal limb morphology J:89364
abnormal motor neuron morphology J:89364
abnormal neural tube morphology J:89364
abnormal somite shape J:89364
absent notochord J:89364
cyclopia J:89364
decreased somite size J:89364
embryonic growth retardation J:89364
holoprosencephaly J:89364
Shhtm1Chg/Shhtm2Amc
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ 		abnormal artery morphology J:135134
abnormal cardiac outflow tract development J:135134
abnormal neural crest cell apoptosis J:135134
abnormal neural crest cell migration J:135134
persistent truncus arteriosus J:135134
Shhtm1Chg/Shhtm2Chg
Edil3Tg(Sox2-cre)1Amc/Edil3+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal carpal bone morphology J:109101
abnormal digit morphology J:109101
abnormal tarsal bone morphology J:109101
perinatal lethality J:125109
Shhtm1Chg/Shhtm2Chg
Tg(Mef2c-cre)2Blk/0
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ 		abnormal artery morphology J:135134
normal cardiovascular system phenotype J:135134
persistent truncus arteriosus J:135134
Shhtm1Ptch/Shhtm1Ptch
involves: 129P2/OlaHsd * FVB/N * various 		abnormal ventral interneuron 2 morphology J:89228
abnormal ventral interneuron 3 morphology J:89228
decreased embryo size J:89228
decreased motor neuron number J:89228
holoprosencephaly J:89228
neonatal lethality, complete penetrance J:89228
oligodactyly J:89228
Shhtm2Amc/Shhtm2.1Amc
Tg(Nr5a1-cre)2Klp/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N 		abnormal adrenal gland morphology J:168522
abnormal adrenal gland physiology J:168522
abnormal adrenocortical cell morphology J:168522
decreased circulating corticosterone level J:168522
enlarged adrenocortical cells J:168522
increased circulating adrenocorticotropin level J:168522
small adrenal glands J:168522
thin adrenal cortex J:168522
Shhtm2Amc/Shhtm2Amc
Tg(Atp4b-cre/ERT2)1Jrgo/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal gastric surface mucous cell morphology J:191241
abnormal physiological neovascularization J:191241
abnormal stomach pH J:191241
delayed wound healing J:191241
normal digestive/alimentary phenotype J:191241
Shhtm2Amc/Shhtm2Amc
Tg(Nes-cre)1Kln/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		abnormal brain interneuron morphology J:102950
abnormal medial ganglionic eminence morphology J:102950
decreased body size J:147427
decreased brain size J:102950, J:147427
disorganized thalamus J:147427
microcephaly J:102950
postnatal growth retardation J:102950
postnatal lethality, complete penetrance J:102950
seizures J:102950
Shhtm2Amc/Shhtm2Amc
Tg(SFTPC-rtTA)5Jaw/0
Tg(tetO-cre)1Jaw/0
involves: FVB/N 		abnormal branching involved in lung morphogenesis J:91723
abnormal bronchus morphology J:91723
abnormal lung morphology J:91723
abnormal trachea morphology J:91723
abnormal tracheal cartilage morphology J:91723
decreased tracheal cartilage ring number J:91723
lung cyst J:91723
neonatal lethality, complete penetrance J:91723
pulmonary hypoplasia J:91723
Shhtm2Amc/Shhtm3Amc
Tg(Pax2-cre)1Amc/0
involves: 129S1/Sv * 129X1/SvJ * Black Swiss 		abnormal astrocyte morphology J:92189
abnormal cerebellar granule cell morphology J:92189
abnormal cerebellar granule layer morphology J:92189
abnormal cerebellar molecular layer J:92189
abnormal cerebellar Purkinje cell layer J:92189
abnormal cerebellum development J:92189
abnormal cerebellum external granule cell layer morphology J:92189
abnormal cerebellum morphology J:92189
abnormal motor capabilities/coordination/movement J:92189
absent cerebellar lobules J:92189
ataxia J:92189
decreased Purkinje cell number J:92189
premature death J:92189
small cerebellum J:92189
Shhtm2Amc/Shhtm3Amc
Tg(Pcp2-cre)1Amc/0
involves: 129S1/Sv * 129X1/SvJ * Black Swiss 		abnormal cerebellar lobule formation J:92189
abnormal cerebellar Purkinje cell layer J:92189
abnormal cerebellum development J:92189
abnormal cerebellum morphology J:92189
abnormal motor capabilities/coordination/movement J:92189
ataxia J:92189
decreased Purkinje cell number J:92189
small cerebellum J:92189
thin external granule cell layer J:92189
Shhtm2Chg/Shh+
Edil3Tg(Sox2-cre)1Amc/Edil3+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA 		abnormal choroid plexus morphology J:125109
abnormal corpus callosum morphology J:125109
abnormal embryonic/fetal subventricular zone morphology J:125109
abnormal hippocampus development J:125109
abnormal lateral ganglionic eminence morphology J:125109
abnormal maxillary shelf morphology J:125109
abnormal medial ganglionic eminence morphology J:125109
abnormal neurocranium morphology J:125109
abnormal telencephalon development J:125109
abnormal telencephalon morphology J:125109
absent olfactory bulb J:125109
cleft secondary palate J:125109
enlarged brain ventricles J:125109
holoprosencephaly J:125109
increased forebrain size J:125109
increased midbrain size J:125109
palatal shelves fail to meet at midline J:125109
perinatal lethality, complete penetrance J:125109
polydactyly J:109101
Shhtm2Chg/Shhtm2Chg
involves: 129S1/Sv * 129X1/SvJ 		neonatal lethality, complete penetrance J:109101
Shhtm3(cre)Chg/Shhtm3(cre)Chg
Not Specified 		abnormal cardiovascular system morphology J:160335
abnormal cell physiology J:160335
abnormal craniofacial morphology J:160335
abnormal digestive system morphology J:160335
abnormal embryo development J:160335
abnormal eye morphology J:160335
abnormal nervous system morphology J:160335
abnormal prenatal growth/weight/body size J:160335
abnormal respiratory system morphology J:160335
abnormal skeleton morphology J:160335
perinatal lethality J:160335
Shhtm6Amc/Shhtm6Amc
Not Specified 		lethality throughout fetal growth and development, incomplete penetrance J:132152
Tg(KRT14-Shh)#Cobm/0
involves: C57BL/6 * CBA 		abnormal basioccipital bone morphology J:150375
abnormal craniofacial morphology J:150375
abnormal dental arch morphology J:150375
abnormal epidermal layer morphology J:150375
abnormal exoccipital bone morphology J:150375
abnormal frontal bone morphology J:150375
abnormal malleus manubrium morphology J:150375
abnormal maxilla morphology J:150375
abnormal middle ear ossicle morphology J:150375
abnormal neurocranium morphology J:150375
abnormal otic capsule morphology J:150375
abnormal palatal rugae morphology J:150375
abnormal palatal shelf fusion at midline J:150375
abnormal parietal bone morphology J:150375
abnormal premaxilla morphology J:150375
abnormal styloid process morphology J:150375
abnormal tooth development J:150375
abnormal upper lip morphology J:150375
abnormal vertebral arch morphology J:150375
abnormal viscerocranium morphology J:150375
absent palatine bone horizontal plate J:150375
absent supraoccipital bone J:150375
arrest of tooth development J:150375
cleft palate J:150375
cleft secondary palate J:150375
decreased maxillary shelf size J:150375
decreased palatal rugae number J:150375
ectopic cranial bone J:150375
epidermal hyperplasia J:150375
gonial bone hypoplasia J:150375
increased basal cell carcinoma incidence J:150375
kinked tail J:150375
malocclusion J:150375
ocular hypertelorism J:150375
persistence of medial edge epithelium during palatal shelf fusion J:150375
polysyndactyly J:150375
shiny skin J:150375
short limbs J:150375
small mandibular coronoid process J:150375
spina bifida J:150375
split sternum J:150375
syndactyly J:150375
temporal bone squamous part hypoplasia J:150375
tight skin J:150375
translucent skin J:150375
tympanic ring hypoplasia J:150375
Tg(Shh)#Dje/0
involves: CD-1 		abnormal cochlear sensory epithelium morphology J:79100
abnormal inner ear vestibule morphology J:79100
abnormal scala media morphology J:79100
abnormal vestibulocochlear ganglion morphology J:79100
absent semicircular canals J:79100
absent utricle J:79100
absent vestibular saccule J:79100
circling J:79100
head bobbing J:79100
hyperactivity J:79100
Tg(Shh)#Dje/0
involves: Swiss Webster 		abnormal cell proliferation J:94461
abnormal cerebellar cortex morphology J:94461
abnormal cerebellar granule layer morphology J:94461, J:108507
abnormal cerebellum external granule cell layer morphology J:94461
abnormal cerebellum morphology J:94461, J:108507
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory