Article
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.
Human molecular genetics - 1 Mar 1997
Reed V, Boyd Y
Abstract excerpt
Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion transporting ATPase, ATP7A. Genetic, phenotypic and biochemical data suggest that mottled mutants in the mouse, which range in severity and phenotype, are caused by mutation...
Topics
- Adenosine Triphosphatases
- Animals
- Carrier Proteins
- Cation Transport Proteins
- Cloning, Molecular
- Copper
- Copper-Transporting ATPases
- DNA Mutational Analysis
- DNA Primers
- Disease Models, Animal
- Electrophoresis, Polyacrylamide Gel
- Humans
- Male
- Menkes Kinky Hair Syndrome
- Mice
- Mutation
- Phenotype
- Phosphorylation