Article
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.
Human molecular genetics - 1 Jul 1997
Grimes A, Hearn C J, Lockhart P, Newgreen D F, Mercer J F
Abstract excerpt
The brindled mouse mutant (Mo(br)) is the closest animal model of the human genetic copper deficiency, Menkes disease, which is presumed to be due to a mutation at the X-linked mottled locus (Mo). The mutant mice are hypopigmented and die at around 15 days after birth, but can be saved by treatme...
Topics
- Adenosine Triphosphatases
- Amino Acid Sequence
- Animals
- Blotting, Western
- Carrier Proteins
- Cation Transport Proteins
- Conserved Sequence
- Copper-Transporting ATPases
- Humans
- Kidney
- Kidney Tubules, Distal
- Kidney Tubules, Proximal
- Menkes Kinky Hair Syndrome
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Mutation
- Recombinant Fusion Proteins