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

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

Strain of Origin:

DDI

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

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

In Structures Affected by this Mutation:

4 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 Mip Mutation:	31 strains or lines available

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)