Article
The mottled gene is the mouse homologue of the Menkes disease gene.
Nature genetics - 1 Apr 1994
Levinson B, Vulpe C, Elder B, Martin C, Verley F, Packman S, Gitschier J
Abstract excerpt
The mottled mouse has been proposed as an animal model for Menkes disease, an X-linked disorder of copper transport. The recent isolation of a copper-transporting ATPase gene responsible for Menkes disease has allowed us to test this hypothesis. Here we report the isolation and sequence of the mo...
Topics
- Adenosine Triphosphatases
- Alleles
- Amino Acid Sequence
- Animals
- Binding Sites
- Carrier Proteins
- Cation Transport Proteins
- Chromosome Mapping
- Copper
- Copper-Transporting ATPases
- Disease Models, Animal
- Female
- Genes
- Hair Color
- Male
- Menkes Kinky Hair Syndrome
- Mice
- Mice, Inbred C57BL