Atp7a^Mo-ms
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^Mo-ms
• Name: ATPase, copper 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: Atp7a^Mo-ms page

Mutation origin

• Strain of Origin: Outbred

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

Find Mice (IMSR)

• 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

References

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