title: Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.
abstract: Menkes disease (MD) is caused by a defect in copper homeostasis and has a recognised mouse model, mottled (Atp7aMo). Copper uptake and retention assays performed on fibroblast cultures have been used successfully for pre- and postnatal diagnosis of Menkes disease. We report here the results of these assays applied to primary fibroblast cultures established from nine independent mottled alleles associated with phenotypes of varying severity maintained on identical genetic backgrounds. No significant differences were found between the different alleles, or between the mottled cultures and fibroblasts established from MD patients. Thus, in the mouse, the data obtained for copper retention/uptake at the cellular level do not correlate with the severity of the phenotype.
authors.affiliation: MRC Mammalian Genetics Unit, Oxon, UK.
authors.forename: W
authors.initials: W
authors.lastname: Masson
authors.forename: H
authors.initials: H
authors.lastname: Hughes
authors.forename: D
authors.initials: D
authors.lastname: Papworth
authors.forename: Y
authors.initials: Y
authors.lastname: Boyd
authors.forename: N
authors.initials: N
authors.lastname: Horn
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D002460:Cell Line; D003300:Copper / Q000378:metabolism* / Q000493:pharmacokinetics; D000073840:Copper-Transporting ATPases; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000378:metabolism*; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009154:Mutation; D011993:Recombinant Fusion Proteins
chemical_list: C486201:Atp7a protein, mouse; D002352:Carrier Proteins; D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases