Atp7a^Mo-spot
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^Mo-spot
• Name: ATPase, copper transporting, alpha polypeptide; mottled spot
• MGI ID: MGI:2387468
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^Mo-spot page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This is a spontaneous mutation that arose at the Clinical Research Centre. The molecular mutation is a small genomic deletion that removes exons 11-14. RT-PCR and sequencing analysis demonstrated that a shorter transcript that spliced exon 10 to exon 15 was expressed. This in-frame mutant transcript is prediced to encode a protein lacking the majority of the small cytoplasmic loop including a phosphatase motif and the fifth transmembrane domain. (J:69983)
• Inheritance: Semidominant

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)