Atp7a^Mo-vbr
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^Mo-vbr
• Name: ATPase, copper transporting, alpha polypeptide; mottled viable brindled
• MGI ID: MGI:1856102
• Synonyms: Atp7a^K1036T, Atp7a^K1037T, Mo^vBr
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^Mo-vbr 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 substitution at coding nucleotide 3110 in exon 16 that alters coson 1037 from a lysine to a threonine in the phosphorylation domain of the ATPase. (J:38977, J:38978)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

3 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

Notes

Atp7a^Mo-vbr, viable brindled, semidominant. This allele arose spontaneously; it was found among mice in a selection experiment with Cattanach's translocation T(X;7)1Ct (now known as Is(In7;X)1Ct)(J:13473). Heterozygous females have a mottled coat of colored and whitish hair in a pattern of somewhat transversely arranged stripes. The vibrissae are curled, and the coat is slightly rippled (J:5146). Hemizygous males are white, have somewhat reduced viability, and are sterile (J:5146). They have aortic aneurysms, reduced breaking strength of skin, and defective crosslinking of skin collagen and aortic elastin (J:5397). Lysyl oxidase activity in skin is markedly lower than in controls (J:5777). There is decreased level of norepinephrine in the brain as in brindled and blotchy males (J:5373). Evidence of a maternal influence on Atp7a^Mo-vbr coat color, probably due to differing levels of copper in the milk, has been found (J:6573).

References

• Original: J:13473 Cattanach BM, et al., Mo. Mouse News Lett. 1968;38:17
• All: 13 reference(s)