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Symbol
Name
ID
Atp7a
ATPase, Cu++ transporting, alpha polypeptide
MGI:99400
Phenotype annotations related to craniofacial
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
Availability Mouse Genotype
Atp7atm1.1Mjp/Y
Cldn6tm1(cre)Dkwu/Cldn6+  (conditional)

Contributing Projects:
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
The Jackson Laboratory