Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Atp7aMo-Tohm
Name:	ATPase, copper transporting, alpha polypeptide; Mottled Tohoku
MGI ID:	MGI:3588774
Synonyms:	MoTohm
Gene:	Atp7a  Location: ChrX:105070882-105168532 bp, + strand  Genetic Position: ChrX, 47.36 cM
Alliance:	Atp7aMo-Tohm page

Strain of Origin:

mixed

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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

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)