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PMID: 9166584 Published · ppublish English Journal Article

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.

Mammalian genome : official journal of the International Mammalian Genome Society ·Vol. 8 ·No. 6 ·1997-06-00 ·Pages 407-10

Mori M, Nishimura M

Abstract

We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease. A point mutation (T to C) that results in substitution of proline for serine in a putative eighth transmembrane domain of the ATP7A was identified. This contrasts with abnormalities identified in the Atp7a of other mottled mouse strains: lack of expression of Atp7a mRNA in the dappled mouse, and a splicing mutation in the blotchy mouse.

MeSH Terms
Adenosine Triphosphatases/genetics Animals Carrier Proteins/genetics Cation Transport Proteins Copper-Transporting ATPases Deoxyribonuclease BamHI/genetics,metabolism Disease Models, Animal Female Homozygote Humans Male Menkes Kinky Hair Syndrome/genetics Mice Mice, Inbred BALB C Mice, Inbred C3H Mice, Inbred C57BL Mice, Mutant Strains Mutation Point Mutation Proline/genetics Recombinant Fusion Proteins Sequence Analysis, DNA Serine/genetics
Chemicals
Atp7a protein, mouse Carrier Proteins Cation Transport Proteins Recombinant Fusion Proteins Serine Proline Deoxyribonuclease BamHI Adenosine Triphosphatases ATP7A protein, human Copper-Transporting ATPases
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Mori M
Institute for Experimental Animals, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu 431-31, Japan.
Nishimura M
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33 references, click to expand
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Article Info
Journal
Mammalian genome : official journal of the International Mammalian Genome Society
Abbr.
Mamm Genome
ISSN
0938-8990
DOI
10.1007/s003359900457
Published
1997-06-00
Pages
407-10
Language
English
Region
United States
NLM ID
9100916
Subset
IM
External Links
PubMed source DOI: 10.1007/s003359900457 View journal details
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