Symbol Name ID |
Atp7a
ATPase, Cu++ transporting, alpha polypeptide MGI:99400 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal skull morphology |
Brachycephaly |
Microcephaly |
Delayed cranial suture closure |
Persistent open anterior fontanelle |
Wormian bones |
Large fontanelles |
Abnormality of the face |
Long face |
Narrow face |
High forehead |
Long philtrum |
High palate |
High, narrow palate |
Convex nasal ridge |
Abnormality of the sense of smell |
Downslanted palpebral fissures |
Disease(s) Associated with ATP7A | |||||||||||||||||
Menkes disease | |||||||||||||||||
occipital horn syndrome |
Mouse Phenotypes | abnormal frontonasal prominence morphology |
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Availability | Mouse Genotype | |
Atp7atm1.1Mjp/Y Cldn6tm1(cre)Dkwu/Cldn6+ (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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