Atp7a^Mo-ml
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^Mo-ml
• Name: ATPase, copper transporting, alpha polypeptide; mottled macular
• MGI ID: MGI:1856466
• Synonyms: macular, Ml
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^Mo-ml page

Mutation origin

• Strain of Origin: C3Hf/He

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation is a T-to-C transition point mutation at coding nucleotide 4144. This alters codon 1382 from one encoding serine to one encoding proline. This is located at residue 1382 in the eighth transmembrane domain. (J:40664, J:43371, J:46349)
• 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: 1 strain available Cell Lines: 0 lines available
• Carrying any Atp7a Mutation: 69 strains or lines available

Notes

This X-linked mutation causes copper deficiency, and is an appropriate animal model for Menkes disease (J:617). Phenotypic manifestations in male hemizygotes resemble those of other mutations at this locus, especially brindled. However, clinical manifestations can be alleviated by treating hemizygotes with CuCl₂. Treated males live beyond the normal age limit of 15 days, and are capable of breeding, so that homozygous females can be produced. These animals resemble hemizygous males. They have nearly white coat color and curly whiskers, with ataxia and tonic seizures beginning about day 8 and loss of weight beginning about day 10. Death occurs about day 15 (J:23995). Copper administration to normal and afflicted males and to heterozygous females increases copper content of various organs, but does not affect activity of the copper-containing enzyme cytochrome c oxidase (J:12745).

References

• Original: J:173226 Nishimura M, A new mutant mouse, macular (Ml), (in Japanese). Exp Anim. 1975;24:185
• All: 24 reference(s)