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CrygeENU418
Chemically induced Allele Detail
Summary
Symbol: CrygeENU418
Name: crystallin, gamma E; ENU418
MGI ID: MGI:3578339
Gene: Cryge  Location: Chr1:65087713-65090308 bp, - strand  Genetic Position: Chr1, 32.8 cM
Alliance: CrygeENU418 page
Mutation
origin
Strain of Origin:  (102/El x C3H/El)F1
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsAn A66G transition represses splicing of intron 1, allowing an additional 92 bp in the coding sequence that leads to a frameshift and a novel hybrid protein containing 3 amino acids of the gammaE-crystallin at the N terminus and 153 additional novel amino acids. The protein is predicted to have two hydrophobic domains and Western blot demonstrated expression in the cataractous lenses. (J:78761)
Inheritance:    Not Specified
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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 Cryge Mutation:  25 strains or lines available
References
Original:  J:78761 Graw J, et al., Ethylnitrosourea-Induced Base Pair Substitution Affects Splicing of the Mouse gammaE-Crystallin Encoding Gene Leading to the Expression of a Hybrid Protein and to a Cataract. Genetics. 2002 Aug;161(4):1633-40
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
11/12/2024
MGI 6.24
The Jackson Laboratory