Atp7a^Mo-Tohm
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^Mo-Tohm
• Name: ATPase, copper transporting, alpha polypeptide; Mottled Tohoku
• MGI ID: MGI:3588774
• Synonyms: Mo^Tohm
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^Mo-Tohm page

Mutation origin

• Strain of Origin: mixed

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 1440-bp deletion occurred between intron 22 and exon 23. As a result, the donor site of exon 22 and the 4 following bases are retained in the mRNA. This includes a premature stop codon. The resulting mRNA is 500 bases shorter than normal and 91 amino acids are deleted from the protein product. Only two cytosolic amino acid residues past the eighth transmembrane domain are translated. Crossing to mice carrying a wild-type cDNA transgene confirmed the identity of this spontaneous mutation. (J:105797)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

5 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 mutation arose spontaneously in an outbred strain at Tohoku University involving three inbred strains: C57BL/6, C3H/He, and AA (J:105797).

References

• Original: J:105797 Mototani Y, et al., Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease. Genomics. 2006 Feb;87(2):191-9
• All: 1 reference(s)