title: A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.
abstract: 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.
authors.affiliation: Institute for Experimental Animals, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu 431-31, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D015245:Deoxyribonuclease BamHI / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D051379:Mice; D008807:Mice, Inbred BALB C; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009154:Mutation; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D011993:Recombinant Fusion Proteins; D017422:Sequence Analysis, DNA; D012694:Serine / Q000235:genetics
chemical_list: C486201:Atp7a protein, mouse; D002352:Carrier Proteins; D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D012694:Serine; D011392:Proline; D015245:Deoxyribonuclease BamHI; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases