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A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse
- Mori, Masayuki, Nishimura, Masahiko
- Mammalian genome 1997 v.8 no.6 pp. 407-410
- Menkes disease, adenosinetriphosphatase, complementary DNA, genes, humans, messenger RNA, mice, models, nucleotide sequences, point mutation, proline, serine
- 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.