Symbol Name ID |
Atp7a
ATPase, Cu++ transporting, alpha polypeptide MGI:99400 |
Darker colors indicate more annotations |
Human Phenotypes | Genu valgum |
Brachydactyly |
Avascular necrosis of the capital femoral epiphysis |
Coxa valga |
Coxa vara |
Abnormal fibula morphology |
Absent tibia |
Metaphyseal spurs |
Metaphyseal widening |
Humerus varus |
Aplasia/hypoplasia of the humerus |
Short humerus |
Short palm |
Pes cavus |
Pes planus |
Hip dislocation |
Limited knee extension |
Capitate-hamate fusion |
Limited elbow extension |
Abnormality of the wrist |
Disease(s) Associated with ATP7A | ||||||||||||||||||||
Menkes disease | ||||||||||||||||||||
occipital horn syndrome | ||||||||||||||||||||
X-linked distal spinal muscular atrophy 3 |
Mouse Phenotypes | abnormal tail bud morphology |
abnormal autopod morphology |
clubfoot |
abnormal hindlimb morphology |
abnormal limb bone morphology |
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Availability | Mouse Genotype | |||||
Atp7aMo-blo/Atp7aMo-blo | ||||||
Atp7aMo-12H/Atp7a+ | ||||||
Atp7aMo-blo/Atp7a+ | ||||||
Atp7aMo-dp2/Atp7a+ | ||||||
Atp7aMo-dp/Atp7a+ | ||||||
Atp7aMo-to/Atp7a+ | ||||||
Atp7aMo-blo/Y | ||||||
Atp7aMo-dp/Y | ||||||
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 04/16/2024 MGI 6.23 |
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