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| Nomenclature |
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Symbol:
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Atp7aMo-ms
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Name:
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ATPase, Cu++ transporting, alpha polypeptide;
mottled mosaic
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MGI ID: |
MGI:1856100 |
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Synonyms: |
mosaic, ms, Ms |
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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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Strain of Origin:
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Outbred
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Undefined |
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Mutation details: While a direct complementation test was not done for this allele due to male lethality, mice carrying this mutation are genetically and phenotypically similar to other mottled alleles. The phenotype includes a defect in copper transport, consistent with a mutation in the Atp7a gene. The cDNA of this gene was sequenced and a CAG insertion was found at the end of the 4th exon in mutant but not in control mice. The same CAG insertion was previously described as a polymorphism in alternative splicing between BALB/c and C57BL/6 mice, therefore the changed sequence in this Atp7a allele may be strongly related to the phenotype but not the cause of the mutation. (J:156010)
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Inheritance: | |
Semidominant |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Atp7a Mutation:
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67 strains or lines available |
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| References |
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Analysis Tools
