Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:11977
  • Symbol:Atp7a
  • Description:ATPase, Cu++ transporting, alpha polypeptide
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Gene ID Entry Entry Name Protein Name Type Information
11977 Q64430 ATP7A_MOUSE Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein homolog) DISRUPTION PHENOTYPE Cell-specific silencing in motor neurons is associated with loss of motor neuron cell bodies and progressive denervation of the neuromuscular junctions with aging, consistent with the clinical features of human distal spinal muscular atrophy X-linked disease, 3 (DSMAX3). {ECO:0000269|PubMed:25639447}.