title: The mottled gene is the mouse homologue of the Menkes disease gene.
abstract: The mottled mouse has been proposed as an animal model for Menkes disease, an X-linked disorder of copper transport. The recent isolation of a copper-transporting ATPase gene responsible for Menkes disease has allowed us to test this hypothesis. Here we report the isolation and sequence of the mouse homologue of this gene. We show that two mottled (Mo) alleles, dappled (Modp) and blotchy (Moblo), have abnormalities in the murine mRNA and that Modp has a partial gene deletion. These studies prove that the mottled mouse is the murine model for Menkes disease, providing the basis for future biochemical and therapeutic studies.
authors.affiliation: Department of Medicine, University of California, San Francisco 94143-0724.
authors.forename: B
authors.initials: B
authors.lastname: Levinson
authors.forename: C
authors.initials: C
authors.lastname: Vulpe
authors.forename: B
authors.initials: B
authors.lastname: Elder
authors.forename: C
authors.initials: C
authors.lastname: Martin
authors.forename: F
authors.initials: F
authors.lastname: Verley
authors.forename: S
authors.initials: S
authors.lastname: Packman
authors.forename: J
authors.initials: J
authors.lastname: Gitschier
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D001665:Binding Sites; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins; D002874:Chromosome Mapping; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D004195:Disease Models, Animal; D005260:Female; D005796:Genes; D006200:Hair Color / Q000235:genetics*; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D011993:Recombinant Fusion Proteins; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: C486201:Atp7a protein, mouse; D002352:Carrier Proteins; D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases