Mip^Cat-Tohm
Spontaneous Allele Detail

Summary

• Symbol: Mip^Cat-Tohm
• Name: major intrinsic protein of lens fiber; dominant cataract Tohoku
• MGI ID: MGI:2657065
• Synonyms: Cat^Tohm
• Gene: Mip Location: Chr10:128061707-128067681 bp, + strand Genetic Position: Chr10, 76.49 cM, cytoband D1
• Alliance: Mip^Cat-Tohm page

Mutation origin

• Strain of Origin: DDI

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A 12 bp deletion was found to underlie this gain-of-function mutation that arose in the DDI strain. The deletion is in-frame and results in the loss of four amino acids from the second transmembrane domain, affecting cellular localization of the protein. The mutant protein localizes to the intracellular and perinuclear spaces rather than the plasma membrane of lens fiber cells. (J:82971)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Mip Mutation: 33 strains or lines available

References

• Original: J:82971 Okamura T, et al., Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice. Genomics. 2003 Apr;81(4):361-8
• All: 2 reference(s)