Atp7a^Mo-blo
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^Mo-blo
• Name: ATPase, copper transporting, alpha polypeptide; blotchy
• MGI ID: MGI:1856097
• Synonyms: ATP7A^mut, Blo, Mo^blo
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^Mo-blo page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation is an A-to-C transversion in postition +3 of the intron 11 splice donor. Trancripts derived from this allele are often misspliced and either skip exon 11 or use a cryptic splice site further downstream from the correct splice site. Some normal transcript is also expressed. Western blot and activity analysis demonstrated that only greatly reduced levels of normal sized, but nonfunctional, protein was made. (J:17492, J:17493, J:23118, J:38977)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	19 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Atp7a Mutation: 69 strains or lines available

References

• Original: J:189 Russell LB, Recombination, Blo-Ta. Mouse News Lett. 1960;23:58
• All: 39 reference(s)