Abnormal cellular copper metabolism in the blotchy mouse.
Defective copper metabolism was demonstrated in male mice bearing the blotchy (Moblo/y) allele at the mottled locus on the X-chromosome. Copper absorption from the gut was only 64% of that found in normal mice and hepatic copper levels were only 56% of the controls. Ceruloplasmin and heart cytochrome c oxidase activities were normal, yet lysyl oxidase activity from cultured fibroblasts was only 45% of control levels. Copper accumulated in fibroblasts cultured from these mutants to values that were five times normal. The accumulation of copper in the fibroblasts was associated with a protein of approximately 12,000 molecular weight.
D000483:Alleles; D000818:Animals; D002478:Cells, Cultured; D002570:Ceruloplasmin / Q000378:metabolism; D003300:Copper / Q000378:metabolism*; D003576:Electron Transport Complex IV / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000378:metabolism*; D051379:Mice / Q000235:genetics; D008970:Molecular Weight; D009154:Mutation; D008249:Protein-Lysine 6-Oxidase / Q000378:metabolism; D011506:Proteins / Q000378:metabolism; D014018:Tissue Distribution; D015032:Zinc / Q000378:metabolism
D011506:Proteins; D003300:Copper; D002570:Ceruloplasmin; D008249:Protein-Lysine 6-Oxidase; D003576:Electron Transport Complex IV; D015032:Zinc