Article
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
Nature genetics - 1 Apr 1994
Mercer J F, Grimes A, Ambrosini L, Lockhart P, Paynter J A, Dierick H, Glover T W
Abstract excerpt
The murine homologue of the Menkes disease gene (MNK) was isolated from cDNA libraries, using human cDNA clones as probes, and by PCR. The predicted amino acid sequence shows a high level of identity (89.9%) with the human protein, and the predicted functional domains in the human protein are present. Using probes to the mouse Mnk gene, we found that the mottled dappled mutation was caused by alteration in the...
Topics
- Adenosine Triphosphatases
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Southern
- Carrier Proteins
- Cation Transport Proteins
- Copper-Transporting ATPases
- Disease Models, Animal
- Female