|
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 |
Abnormality of the face |
Abnormal facial shape |
Flat face |
Narrow face |
Abnormality of the mouth |
Abnormal lip morphology |
Smooth philtrum |
Tented upper lip vermilion |
Cleft upper lip |
Cleft palate |
Narrow mouth |
Orofacial cleft |
Underdeveloped nasal alae |
Depressed nasal ridge |
Depressed nasal bridge |
Narrow nasal bridge |
Prominent nasal bridge |
Wide nasal bridge |
Narrow naris |
Aplasia/Hypoplasia involving the nose |
Short nose |
Abnormal eyebrow morphology |
Synophrys |
Thick eyebrow |
White eyebrow |
White eyelashes |
Blepharophimosis |
Downslanted palpebral fissures |
Telecanthus |
Lacrimal duct atresia |
| Disease(s) Associated with PAX3 | ||||||||||||||||||||||||||||||||||
| craniofacial-deafness-hand syndrome | ||||||||||||||||||||||||||||||||||
| Waardenburg syndrome | ||||||||||||||||||||||||||||||||||
| Waardenburg syndrome type 1 | ||||||||||||||||||||||||||||||||||
| Waardenburg syndrome type 3 |
| Mouse Phenotypes | abnormal pharyngeal arch artery morphology |
abnormal sixth pharyngeal arch artery morphology |
abnormal craniofacial morphology |
abnormal craniofacial bone morphology |
abnormal bony labyrinth |
absent alisphenoid bone |
alisphenoid bone hypoplasia |
abnormal pterygoid process morphology |
absent pterygoid process |
abnormal secondary palate development |
failure of palatal shelf elevation |
abnormal palate morphology |
decreased palatal length |
cleft palate |
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| Availability | Mouse Genotype | ||||||||||||||
| Pax3Sp-1H/Pax3Sp-1H | |||||||||||||||
| Pax3Sp/Pax3Sp | |||||||||||||||
| 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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| Gt(ROSA)26Sortm2(Pax3)Joe/Gt(ROSA)26Sor+ Pax3tm1(cre)Joe/Pax3+ (conditional) |
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| Gt(ROSA)26Sortm2(Pax3)Joe/Gt(ROSA)26Sor+ 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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