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Symbol
Name
ID
Shh
sonic hedgehog
MGI:98297
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Postaxial hand polydactyly
Complete duplication of distal phalanx of the thumb
Camptodactyly of finger
Broad thumb
Duplication of thumb phalanx
Hand polydactyly
Preaxial hand polydactyly
Dysplastic distal thumb phalanges with a central hole
Triphalangeal thumb
Opposable triphalangeal thumb
Adducted thumb
Aplasia/Hypoplasia of the thumb
Postaxial foot polydactyly
Duplication of phalanx of hallux
Broad hallux
Preaxial foot polydactyly
Foot polydactyly
Toe syndactyly
1-5 toe syndactyly
2-3 toe syndactyly
Cutaneous syndactyly of toes
Polydactyly
Postaxial polydactyly
Preaxial polydactyly
Brachydactyly
Syndactyly
Cutaneous finger syndactyly
1-5 finger complete cutaneous syndactyly
1-5 finger syndactyly
3-4 finger syndactyly
Abnormal fibula morphology
Fibular duplication
Aplasia/Hypoplasia of the tibia
Absent tibia
Short tibia
Patellar aplasia
Supernumerary metacarpal bones
6 metacarpals
Y-shaped metacarpals
Talipes
Synostosis of carpal bones
Disease(s) Associated with SHH
Hirschsprung's disease
holoprosencephaly
hypoplastic or aplastic tibia with polydactyly
polydactyly
syndactyly type 4

Mouse Phenotypes
abnormal limb morphology
abnormal autopod morphology
abnormal carpal bone morphology
abnormal digit morphology
adactyly
oligodactyly
polydactyly
polysyndactyly
syndactyly
abnormal tarsal bone morphology
abnormal humerus morphology
abnormal forelimb zeugopod morphology
absent forelimb
abnormal hindlimb zeugopod morphology
absent fibula
absent tibia
absent hindlimb
abnormal limb bone morphology
abnormal limb development
short limbs
kinked tail
Availability Mouse Genotype
Shhtm1(EGFP/cre)Cjt/Shhtm1(EGFP/cre)Cjt
Shhtm1Chg/Shhtm1Chg
Shhtm1Ptch/Shhtm1Ptch
Tg(KRT14-Shh)#Cobm/0
Shhtm1Chg/Shhtm2Chg
Edil3Tg(Sox2-cre)1Amc/Edil3+  (conditional)
Shhtm2Chg/Shh+
Edil3Tg(Sox2-cre)1Amc/Edil3+  (conditional)

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)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory