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Symbol
Name
ID
Atp7a
ATPase, Cu++ transporting, alpha polypeptide
MGI:99400
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Gastroparesis
Hypertonia
Hypotonia
EMG: neuropathic changes
Distal muscle weakness
Poor head control
Distal amyotrophy
Spinal muscular atrophy
Disease(s) Associated with ATP7A
Menkes disease
occipital horn syndrome
X-linked distal spinal muscular atrophy 3

Mouse Phenotypes
abnormal skeletal muscle fiber morphology
increased skeletal muscle fiber diameter
decreased skeletal muscle mass
calcified tendon
muscular atrophy
Availability Mouse Genotype
Atp7aMo-dp2/Atp7a+
Atp7atm1.2Mlke/Y
Atp7atm1.1Mjp/Y
Mnx1tm4(cre)Tmj/Mnx1+  (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
04/16/2024
MGI 6.23
The Jackson Laboratory