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| Nomenclature |
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Symbol:
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Crygenz
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Name:
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crystallin, gamma E;
dominant cataract 2, nuclear and zonular opacity
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MGI ID: |
MGI:1855995 |
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Synonyms: |
Cat2nz, CrygeCat2-nz, Nzc |
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Gene:
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Cryge
Location:
Chr1:65048554-65051149 bp, - strand
Genetic Position: Chr1,
32.8 cM
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Mutation
origin |
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Strain of Origin:
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(101 x C3H)F1
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Mutation
description |
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Allele
Type: | |
Radiation induced |
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Mutation: | |
Intragenic deletion |
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Mutation details: A deletion of a T at position 89 in the encoded mRNA leads to a change in the open reading frame. The mutated sequence encodes a novel peptide of 125 amino acids, as detected in Western blotting of lens extracts derived from mutant mice. (J:66541)
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Inheritance: | |
Semidominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cryge Mutation:
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7 strains or lines available |
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Notes |
Arose in descendants of irradiated mice. This mutation causes less severe defects than other Cat2 alleles. In heterozygotes, there is a fine granular opacity of the nucleus, surrounded by a less opaque concentric area. In homozygotes, a dense opacity involves the whole lens except the peripheral layer. The phenotype is bilateral and penetrance is complete in both heterozygotes and homozygotes. Homozygotes are viable and fertile (J:6686).
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| References |
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Original: |
J:6686
Kratochvilova J,
"Dominant cataract mutations detected in offspring of gamma-irradiated male mice."
J Hered 1981 Sep-Oct;72(5):302-7
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All: |
4 reference(s)
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Analysis Tools
