Cryge^ENU418
Chemically induced Allele Detail

Summary

• Symbol: Cryge^ENU418
• Name: crystallin, gamma E; ENU418
• MGI ID: MGI:3578339
• Gene: Cryge Location: Chr1:65087713-65090308 bp, - strand Genetic Position: Chr1, 32.8 cM
• Alliance: Cryge^ENU418 page

Mutation origin

• Strain of Origin: (102/El x C3H/El)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: An A>G mutation in the 3' end of intron 1 prevents the excision of intron 1, allowing an additional 92 bp in the coding sequence that leads to a frameshift and a novel hybrid protein containing only the first three amino acids of the wild-type gamma E crystallin at the N terminus followed by 153 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

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: 23 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)