|
|
| Nomenclature |
|
Symbol:
|
Cryget
|
|
Name:
|
crystallin, gamma E;
total opacity and microphthalmia
|
|
MGI ID: |
MGI:1857598 |
|
Synonyms: |
Cat-2t, Cat2t, CrygeCat2-t, R-324 |
|
Gene:
|
Cryge
Location:
Chr1:65048554-65051149 bp, - strand
Genetic Position: Chr1,
32.8 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
(102/El x C3H/El)F1
|
|
Mutation
description |
|
Allele
Type: | |
Radiation induced |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: A C to G transversion at nucleotide position 432 in exon 3 of Cryge that creates a premature termination signal and results in a truncated protein after amino acid 143. (J:50319)
|
|
Inheritance: | |
Dominant |
|
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)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Cryge Mutation:
|
7 strains or lines available |
|
|
Notes |
Arose in descendants of X-irradiated (102/El X C3H/El)F1 mice and originally called R-324 (J:23991, J:52633). Homozygotes and heterozygotes have total lens opacity and dysplasia, iris dysplasia with small pupils, and microphthalmia (J:9528). The epithelial and fiber cells swell and the lens capsule ruptures (J:23991). There is complete destruction of lens cellular organization. The biochemistry of the cataractous lenses is also affected in the osmotic, energy, and redox states, probably as a secondary effect. Changes in vimentin and transglutamase, however, may be more directly connected with developmental changes (J:23991).
With the discovery that the mutation is a nucleotide substitution, it has been suggested that CrygeCat2-t may have possibly been spontaneous instead of X-ray induced J:50319.
|
| References |
|
Original: |
J:52633
Graw J et al.,
"Dominant cataract and recessive specific locus mutations in offspring of X-irradiated male mice."
Mutat Res 1986 Jan-Feb;159(1-2):47-54
|
|
All: |
8 reference(s)
|
|
Analysis Tools
