Article
The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
Human molecular genetics - 1 Mar 1997
Cecchi C, Biasotto M, Tosi M, Avner P
Abstract excerpt
Mutations in the Atp7a gene, the mouse homologue of the MNK (ATP7A) gene, have been suggested to be responsible for the mottled phenotype. To date, despite considerable effort, changes associated with the mottled mutations have been detected in only two such mutants. In this study, we identify changes in the level of Atp7a transcript and mutations which could explain the mottled phenotype in nine out of the 10...
Topics
- Adenosine Triphosphatases
- Animals
- Carrier Proteins
- Cation Transport Proteins
- Copper
- Copper-Transporting ATPases
- DNA Mutational Analysis
- DNA Primers
- Disease Models, Animal
- Electrophoresis, Polyacrylamide Gel
- Embryo, Mammalian