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MipCat-Tohm
Spontaneous Allele Detail
Nomenclature
Symbol: MipCat-Tohm
Name: major intrinsic protein of lens fiber; dominant cataract Tohoku
MGI ID: MGI:2657065
Synonyms: CatTohm
Gene: Mip  Location: Chr10:128225838-128231812 bp, + strand  Genetic Position: Chr10, 76.49 cM, cytoband D1
Mutation
origin
Strain of Origin:  DDI
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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:  16 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory