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1: Nat Genet. 1994 Apr;6(4):369-73.Click here to read Links
Comment in:
Nat Genet. 1994 Sep;8(1):11-2.

The mottled gene is the mouse homologue of the Menkes disease gene.

Levinson B, Vulpe C, Elder B, Martin C, Verley F, Packman S, Gitschier J.

Department of Medicine, University of California, San Francisco 94143-0724.

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 mouse homologue of this gene. We show that two mottled (Mo) alleles, dappled (Modp) and blotchy (Moblo), have abnormalities in the murine mRNA and that Modp has a partial gene deletion. These studies prove that the mottled mouse is the murine model for Menkes disease, providing the basis for future biochemical and therapeutic studies.

PMID: 8054976 [PubMed - indexed for MEDLINE]