|
|
| Nomenclature |
|
Symbol:
|
MipCat-Fr
|
|
Name:
|
major intrinsic protein of eye lens fiber;
dominant cataract Fraser
|
|
MGI ID: |
MGI:1857104 |
|
Synonyms: |
Cat60, shrivelled, Svl |
|
Gene:
|
Mip
Location:
Chr10:128225838-128231812 bp, + strand
Genetic Position: Chr10,
76.49 cM, cytoband D1
|
|
Mutation
origin |
|
Mutation
description |
|
Allele
Type: | |
Spontaneous |
|
Mutation: | |
Transposon insertion |
| |
|
Mutation details: A transposon-induced error in splicing introduces a long terminal repeat sequence replacing the normal carboxy terminus in mutant mice. (J:31574)
|
|
Inheritance: | |
Semidominant |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
|
Notes |
In chimeric embryos formed between a strain of mice homozygous for MipCat-Fr and the DBA/2 strain, homozygous for the wild-type Mip allele, the lens is histologically, cellularly, and biochemically normal (J:35863).
A study of the lens crystallins shows a decrease in the proportion of a-crystallins and an increase in the proportion of a-crystallins (J:6987). At birth, a-crystallin mRNAs are present in nearly normal amounts and functional capacity but are selectively lost by 40 days of age. The effect is more severe in homozygotes than in heterozygotes. The a-crystallin cellular DNA does not differ from normal (J:7668).
|
| References |
|
Original: |
J:5045
Verrusio AC et al.,
"Identity of mutant genes 'Shrivelled' and cataracta congenita subcapsularis in the mouse."
Genet Res 1966 Dec;8(3):377-8
|
|
All: |
11 reference(s)
|
|
Analysis Tools
