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Symbol Name ID |
Ptch1
patched 1 MGI:105373 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal skull morphology |
Frontal bossing |
Flat occiput |
Parietal bossing |
Brachycephaly |
Cranial asymmetry |
Mandibular prognathia |
Hypoplasia of the premaxilla |
Hypoplasia of the zygomatic bone |
Shallow orbits |
Bridged sella turcica |
Dandy-Walker malformation |
Microcephaly |
Macrocephaly |
Encephalocele |
Absent nasal septal cartilage |
Short neck |
Short distal phalanx of the thumb |
Hand polydactyly |
Arachnodactyly |
Polydactyly |
Brachydactyly |
Short 4th metacarpal |
Irregular ossification of hand bones |
Joint hypermobility |
Vertebral fusion |
Down-sloping shoulders |
Abnormal rib morphology |
Short ribs |
Bifid ribs |
Anterior rib cupping |
Rib fusion |
Supernumerary ribs |
Sprengel anomaly |
Abnormal sternum morphology |
Kyphoscoliosis |
Scoliosis |
Abnormal vertebral morphology |
Abnormal form of the vertebral bodies |
Hemivertebrae |
Vertebral wedging |
Cerebral calcification |
Calcification of falx cerebri |
| Disease(s) Associated with PTCH1 | |||||||||||||||||||||||||||||||||||||||||||
| holoprosencephaly | |||||||||||||||||||||||||||||||||||||||||||
| holoprosencephaly 7 | |||||||||||||||||||||||||||||||||||||||||||
| nevoid basal cell carcinoma syndrome | |||||||||||||||||||||||||||||||||||||||||||
| nevoid basal cell carcinoma syndrome 1 |
| Mouse Phenotypes | abnormal osteoblast differentiation |
increased chondrocyte proliferation |
abnormal lambdoid suture morphology |
abnormal cranium morphology |
abnormal basicranium morphology |
abnormal basisphenoid bone morphology |
small basisphenoid bone |
abnormal neurocranium morphology |
abnormal frontal bone morphology |
abnormal interparietal bone morphology |
abnormal parietal bone morphology |
alisphenoid bone hypoplasia |
absent presphenoid bone |
abnormal upper incisor morphology |
abnormal enamel morphology |
mandibular coronoid process hypoplasia |
short mandibular coronoid process |
mandibular cyst |
domed cranium |
abnormal tendon morphology |
abnormal skeleton morphology |
abnormal long bone hypertrophic chondrocyte zone |
decreased length of long bones |
scapular bone foramen |
abnormal sternum morphology |
asymmetric sternocostal joints |
abnormal sternum manubrium morphology |
abnormal xiphoid process morphology |
abnormal rib morphology |
decreased rib number |
kyphosis |
fused synovial joints |
abnormal bone ossification |
abnormal bone mineralization |
abnormal intramembranous bone ossification |
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| Availability | Mouse Genotype | |||||||||||||||||||||||||||||||||||
| Ptch1dl/Ptch1dl | ||||||||||||||||||||||||||||||||||||
| Ptch1mes/Ptch1mes | ||||||||||||||||||||||||||||||||||||
| Ptch1dl/Ptch1tm1Mps | ||||||||||||||||||||||||||||||||||||
| Ptch1dl/Ptch1tm1Zim | ||||||||||||||||||||||||||||||||||||
| Ptch1tm1Kmmt/Ptch1+ | ||||||||||||||||||||||||||||||||||||
| Ptch1tm1Zim/Ptch1+ | ||||||||||||||||||||||||||||||||||||
| Ptch1tm1Yy/Ptch1tm1Yy Tg(BGLAP-cre)1Clem/0 (conditional) |
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| Ptch1tm1Yy/Ptch1tm1.1Yy Tg(Col2a1-cre)1Bhr/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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