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| Nomenclature |
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Symbol:
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Atp7aMo-Tohm
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Name:
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ATPase, Cu++ transporting, alpha polypeptide;
Mottled Tohoku
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MGI ID: |
MGI:3588774 |
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Synonyms: |
MoTohm |
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Gene:
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Atp7a
Location:
ChrX:106027276-106124926 bp, + strand
Genetic Position: ChrX,
47.36 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: A 1440-bp deletion occurred between intron 22 and exon 23. As a result, the donor site of exon 22 and the 4 following bases are retained in the mRNA. This includes a premature stop codon. The resulting mRNA is 500 bases shorter than normal and 91 amino acids are deleted from the protein product. Only two cytosolic amino acid residues past the eighth transmembrane domain are translated. Crossing to mice carrying a wild-type cDNA transgene confirmed the identity of this spontaneous mutation. (J:105797)
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Inheritance: | |
Dominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
This mutation arose spontaneously in an outbred strain at Tohoku University involving three inbred strains: C57BL/6, C3H/He, and AA (J:105797).
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| References |
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Original: |
J:105797
Mototani Y et al.,
"Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease."
Genomics 2006 Feb;87(2):191-9
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All: |
1 reference(s)
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Analysis Tools
