A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

Mamm Genome. 1997 Jun;8(6):407-10. doi: 10.1007/s003359900457.


We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease. A point mutation (T to C) that results in substitution of proline for serine in a putative eighth transmembrane domain of the ATP7A was identified. This contrasts with abnormalities identified in the Atp7a of other mottled mouse strains: lack of expression of Atp7a mRNA in the dappled mouse, and a splicing mutation in the blotchy mouse.

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Animals
  • Carrier Proteins / genetics*
  • Cation Transport Proteins*
  • Copper-Transporting ATPases
  • Deoxyribonuclease BamHI / genetics
  • Deoxyribonuclease BamHI / metabolism
  • Disease Models, Animal
  • Female
  • Homozygote
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / genetics*
  • Mice
  • Mice, Inbred BALB C
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Mutation*
  • Point Mutation
  • Proline / genetics
  • Recombinant Fusion Proteins*
  • Sequence Analysis, DNA
  • Serine / genetics


  • Atp7a protein, mouse
  • Carrier Proteins
  • Cation Transport Proteins
  • Recombinant Fusion Proteins
  • Serine
  • Proline
  • Deoxyribonuclease BamHI
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases