|
Symbol Name ID |
Shh
sonic hedgehog MGI:98297 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal skull morphology |
Frontal bossing |
Flat occiput |
Hypoplasia of the zygomatic bone |
Malar flattening |
Dandy-Walker malformation |
Microcephaly |
Macrocephaly |
Encephalocele |
Short neck |
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 |
Synostosis of carpal bones |
Joint hypermobility |
Limitation of joint mobility |
Scoliosis |
Abnormal form of the vertebral bodies |
| Disease(s) Associated with SHH | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung's disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| holoprosencephaly | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| holoprosencephaly 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| hypoplastic or aplastic tibia with polydactyly | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| polydactyly | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| solitary median maxillary central incisor | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| syndactyly type 4 |
| Mouse Phenotypes | skeleton phenotype |
abnormal craniofacial bone morphology |
abnormal cranium morphology |
abnormal basioccipital bone morphology |
abnormal styloid process morphology |
abnormal neurocranium morphology |
abnormal frontal bone morphology |
abnormal exoccipital bone morphology |
absent supraoccipital bone |
abnormal parietal bone morphology |
temporal bone squamous part hypoplasia |
abnormal viscerocranium morphology |
absent alveolar process |
abnormal dental arch morphology |
abnormal odontoblast morphology |
abnormal incisor morphology |
abnormal lower incisor morphology |
small incisors |
abnormal molar cusp morphology |
small molars |
abnormal tooth development |
abnormal ameloblast morphology |
absent enamel cord |
arrest of tooth development |
growth retardation of incisors |
growth retardation of molars |
abnormal dentin morphology |
abnormal enamel morphology |
malocclusion |
small mandibular coronoid process |
abnormal maxilla morphology |
abnormal maxillary shelf morphology |
decreased maxillary shelf size |
abnormal premaxilla morphology |
abnormal nasal bone morphology |
absent palatine bone horizontal plate |
ectopic cranial bone |
abnormal middle ear ossicle morphology |
gonial bone hypoplasia |
abnormal malleus manubrium morphology |
abnormal carpal bone morphology |
abnormal tarsal bone morphology |
abnormal humerus morphology |
absent fibula |
absent tibia |
abnormal limb bone morphology |
abnormal tracheal cartilage morphology |
decreased tracheal cartilage ring number |
absent tracheal cartilage rings |
abnormal skeleton morphology |
abnormal long bone morphology |
split sternum |
abnormal axial skeleton morphology |
decreased rib number |
abnormal vertebrae morphology |
abnormal vertebral arch morphology |
absent vertebrae |
decreased bone mineral content |
absent cartilage |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Shhtm1(EGFP/cre)Cjt/Shhtm1(EGFP/cre)Cjt | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Shhtm1Amc/Shhtm1Amc | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Shhtm1Chg/Shhtm1Chg | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Shhtm3(cre)Chg/Shhtm3(cre)Chg | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Shhtm1b(EUCOMM)Wtsi/Shh+ | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tg(KRT14-Shh)#Cobm/0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Shhtm2Amc/Shhtm2Amc Tg(SFTPC-rtTA)5Jaw/0 Tg(tetO-cre)1Jaw/0 (conditional) |
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| Shhtm1Chg/Shhtm2Chg Edil3Tg(Sox2-cre)1Amc/Edil3+ (conditional) |
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| Shhtm2Chg/Shh+ Edil3Tg(Sox2-cre)1Amc/Edil3+ (conditional) |
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| Shhtm1Amc/Shhtm2Amc Tg(SFTPC-rtTA)5Jaw/0 Tg(tetO-cre)1Jaw/0 (conditional) |
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| Shhtm1Amc/Shhtm2Amc Tg(KRT14-cre)1Amc/0 (conditional) |
* | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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