Atp7a^Mo-ca
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

1 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

References

• 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)