Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Atp7aMo-ms
Name:	ATPase, Cu++ transporting, alpha polypeptide; mottled mosaic
MGI ID:	MGI:1856100
Synonyms:	mosaic, ms, Ms
Gene:	Atp7a  Location: ChrX:105070882-105168532 bp, + strand  Genetic Position: ChrX, 47.36 cM
Alliance:	Atp7aMo-ms page

Strain of Origin:

Outbred

Allele Type:    Spontaneous Mutation:    Undefined   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) Inheritance:    Semidominant

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

9 anatomical structure(s)

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:	69 strains or lines available

Original:	J:15062 Krzanowska H, Mo. Mouse News Lett. 1966;35:35
All:	15 reference(s)