title: [Mice with mottled mutation--a model for defective copper metabolism in humans].
abstract: The group of X-linked mottled (Atp7aMo) mutations in mice is described. A normal gene encodes a copper-binding P-type ATPase. Mutant animals have the disturbance in copper metabolism, hemizygous males (Mo/y) die between 14-18 days of life, heterozygous females (Mo/+) are normal and fertile. This kind of copper metabolic defect is observed also in other animal and in human. In human Menkes disease caused by X-linked Atp7a mutant gene leads to death in early childhood. Because of is 89% of homology between Atp7aMo gene and Atp7a locus in human, mottled mutations are an excellent model for Menkes disease.
authors.affiliation: Zakład Genetyki, Ewolucjonizmu Instytutu Zoologii Uniwersytetu Jagiellońskiego, Krakowie.
authors.forename: M
authors.initials: M
authors.lastname: Lenartowicz
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000818:Animals; D003300:Copper / Q000378:metabolism*; D004195:Disease Models, Animal; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics / Q000378:metabolism; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D014960:X Chromosome / Q000235:genetics
chemical_list: D003300:Copper; D000251:Adenosine Triphosphatases
vernacular_title: Myszy z mutacja mottled--model zaburzeń metabolizmu miedzi u ludzi.