SHORT COMMUNICATION
[Mice with mottled mutation–a model for defective copper metabolism in humans]
M Lenartowicz 1
1. Zakład Genetyki, Ewolucjonizmu Instytutu Zoologii Uniwersytetu Jagiellońskiego,Krakowie.
Published:
GICID: 01.3001.0000.3190
Available language versions: en pl
Issue: Postepy Hig Med Dosw 1998; 52 (5)
Abstract
The group of X-linked mottled (Atp7aMo) mutations in mice is described. A normal gene encodes a copper-binding P-type ATPase. Mutant animals have the disturbance in copper metabolism, hemizygous males (Mo/y) die between 14-18 days of life, heterozygous females (Mo/+) are normal and fertile. This kind of copper metabolic defect is observed also in other animal and in human. In human Menkes disease caused by X-linked Atp7a mutant gene leads to death in early childhood. Because of is 89% of homology between Atp7aMo gene and Atp7a locus in human, mottled mutations are an excellent model for Menkes disease.