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Spontaneous Allele Detail
Symbol: Atp7aMo-ms
Name: ATPase, Cu++ transporting, alpha polypeptide; mottled mosaic
MGI ID: MGI:1856100
Synonyms: mosaic, ms, Ms
Gene: Atp7a  Location: ChrX:106027276-106124926 bp, + strand  Genetic Position: ChrX, 47.36 cM
Strain of Origin:  Outbred
Allele Type:    Spontaneous
Mutation:    Undefined
Mutation detailsWhile 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)
Inheritance:    Semidominant
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Atp7a Mutation:  74 strains or lines available
Original:  J:15062 Krzanowska H, Mo. Mouse News Lett. 1966;35:35
All:  11 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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