|
Symbol Name ID |
Pax3
paired box 3 MGI:97487 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormality of the eye |
Heterochromia iridis |
Blue irides |
Hypoplastic iris stroma |
Hypopigmentation of the fundus |
Hypertelorism |
Strabismus |
Abnormality of vision |
Lacrimation abnormality |
Ptosis |
| Disease(s) Associated with PAX3 | ||||||||||
| craniofacial-deafness-hand syndrome | ||||||||||
| Waardenburg syndrome | ||||||||||
| Waardenburg syndrome type 1 | ||||||||||
| Waardenburg syndrome type 3 |
| Mouse Phenotypes | vision/eye phenotype |
abnormal eyelid development |
failure of eyelid fusion |
abnormal eyelid morphology |
absent eyelids |
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| Availability | Mouse Genotype | |||||
| Pax3Sp-10J/Pax3+ | * | |||||
| Gt(ROSA)26Sortm2(Pax3)Joe/Gt(ROSA)26Sortm2(Pax3)Joe Pax3tm1(cre)Joe/Pax3+ (conditional) |
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| Gt(ROSA)26Sortm2(Pax3)Joe/Gt(ROSA)26Sortm2(Pax3)Joe H2az2Tg(Wnt1-cre)11Rth/H2az2+ (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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