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

Symbol:	Atp7aMo-ca
Name:	ATPase, Cu++ transporting, alpha polypeptide; candy
MGI ID:	MGI:2387450
Gene:	Atp7a  Location: ChrX:105070882-105168532 bp, + strand  Genetic Position: ChrX, 47.36 cM
Alliance:	Atp7aMo-ca page

Strain of Origin:

Not Specified

Allele Type:    Spontaneous (Null/knockout) Mutation:    Insertion   Mutation details: The mutation is an insertion of 81 bp of sequence with homology to a LINE L1 element in exon 10 of the gene. RT-PCR and sequencing analysis demonstrated that this results in aberrant splicing of the transcript such that the first 30 nt encoded by exon 10 are missing in the mRNA. The predicted protein from this allele would lack the carboxy-terminal portion of the second transmembrane motif. (J:69983) Inheritance:    Semidominant

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

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

Original:	J:69983 Cunliffe P, et al., Intragenic deletions at atp7a in mouse models for menkes disease. Genomics. 2001 Jun 1;74(2):155-62
All:	1 reference(s)