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PMID: 8054976 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Nature genetics ·Vol. 6 ·No. 4 ·1994-04-00 ·Pages 369-73

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

Abstract

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.

Related Genes

MNK Mo Mo<up>blo</up> Mo<up>dp</up> Mo<up>ml</up> Mo<up>pew</up> Mo<up>to</up> Mo<up>vbr</up>

MeSH Terms

Adenosine Triphosphatases/genetics,metabolism Alleles Amino Acid Sequence Animals Binding Sites Carrier Proteins/genetics,metabolism Cation Transport Proteins Chromosome Mapping Copper/metabolism Copper-Transporting ATPases Disease Models, Animal Female Genes Hair Color/genetics Male Menkes Kinky Hair Syndrome/genetics Mice Mice, Inbred C57BL Mice, Mutant Strains/genetics Molecular Sequence Data Recombinant Fusion Proteins Sequence Deletion Sequence Homology, Amino Acid Species Specificity

Chemicals

Atp7a protein, mouse Carrier Proteins Cation Transport Proteins Recombinant Fusion Proteins Copper Adenosine Triphosphatases Copper-Transporting ATPases

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Levinson B

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

Vulpe C

Elder B

Martin C

Verley F

Packman S

Gitschier J

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0494-369

Published

1994-04-00

Pages

369-73

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

NIGMS NIH HHS · NIGMS GM07618 · United States

Databases

GENBANK

U03434

Corrections

CommentIn

PMID: 7726911

External Links

PubMed source DOI: 10.1038/ng0494-369 View journal details

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

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