|
Symbol Name ID |
Pax3
paired box 3 MGI:97487 |
| Darker colors indicate more annotations |
| Human Phenotypes | Mandibular prognathia |
Hypoplasia of the maxilla |
Malar flattening |
Microcephaly |
Abnormal finger morphology |
Camptodactyly of finger |
Ulnar deviation of finger |
Flexion contracture of finger |
Clinodactyly |
Brachydactyly |
Cutaneous finger syndactyly |
Scapular winging |
Carpal synostosis |
Synostosis of carpal bones |
Joint contracture of the hand |
Abnormality of the wrist |
Ulnar deviation of the wrist |
Bilateral wrist flexion contracture |
Axillary pterygium |
Joint stiffness |
Supernumerary ribs |
Sprengel anomaly |
Scoliosis |
Supernumerary vertebrae |
| Disease(s) Associated with PAX3 | ||||||||||||||||||||||||
| craniofacial-deafness-hand syndrome | ||||||||||||||||||||||||
| Waardenburg syndrome type 1 | ||||||||||||||||||||||||
| Waardenburg syndrome type 3 |
| Mouse Phenotypes | abnormal osteoblast differentiation |
abnormal craniofacial bone morphology |
abnormal bony labyrinth |
absent alisphenoid bone |
alisphenoid bone hypoplasia |
abnormal pterygoid process morphology |
absent pterygoid process |
abnormal rib development |
rib fusion |
abnormal bone ossification |
abnormal bone mineralization |
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| Availability | Mouse Genotype | |||||||||||
| Pax3Sp/Pax3Sp | ||||||||||||
| Gt(ROSA)26Sortm2(Pax3)Joe/Gt(ROSA)26Sortm2(Pax3)Joe Pax3tm1(cre)Joe/Pax3+ (conditional) |
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| Pax3tm2.1(PAX3/FOXO1A)Buck/Pax3+ (conditional) | ||||||||||||
| Pax3tm2.1(PAX3/FOXO1A)Buck/Pax3Sp (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 06/12/2024 MGI 6.13 |
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