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
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Adenosine Triphosphatases / genetics*
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Animals
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Carrier Proteins / genetics*
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Cation Transport Proteins*
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Copper-Transporting ATPases
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Deoxyribonuclease BamHI / genetics
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Deoxyribonuclease BamHI / metabolism
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Disease Models, Animal
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Female
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Homozygote
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Humans
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Male
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Menkes Kinky Hair Syndrome / genetics*
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Mice
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Mice, Inbred BALB C
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Mice, Inbred C3H
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Mice, Inbred C57BL
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Mice, Mutant Strains
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Mutation*
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Point Mutation
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Proline / genetics
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Recombinant Fusion Proteins*
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Sequence Analysis, DNA
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Serine / genetics
Substances
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Atp7a protein, mouse
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Carrier Proteins
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Cation Transport Proteins
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Recombinant Fusion Proteins
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Serine
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Proline
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Deoxyribonuclease BamHI
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Adenosine Triphosphatases
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ATP7A protein, human
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Copper-Transporting ATPases