[Mice with mottled mutation--a model for defective copper metabolism in humans].

Abstract excerpt

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...

Topics

• Adenosine Triphosphatases
• Animals
• Copper
• Disease Models, Animal
• Female
• Genetic Linkage
• Humans
• Menkes Kinky Hair Syndrome
• Metal Metabolism, Inborn Errors
• Mice
• Mice, Mutant Strains
• Mutation
• X Chromosome