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| Nomenclature |
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Symbol:
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CrygbNop
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Name:
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crystallin, gamma B;
nuclear opacity
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MGI ID: |
MGI:1857597 |
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Synonyms: |
Cat2no, CrygbCat2-nop, Nop |
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Gene:
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Crygb
Location:
Chr1:65080228-65082267 bp, - strand
Genetic Position: Chr1,
32.82 cM
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Mutation
origin |
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Strain of Origin:
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(101/El x C3H/El)F1
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: An 11 bp deletion combined with a 4 bp insertion in exon 3 of Crygb causes a frameshift at codon 139 that leads to premature termination at codon 145 and produces a truncated gene product. (J:50319)
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Inheritance: | |
Dominant |
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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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Notes |
Both homozygotes and heterozygotes are fully viable and fertile, and penetrance is complete in both. The nuclear opacity is seen as a white spot in the eye. The cataractous lens shows decreased activity of four glycolytic enzymes, a decreased amount of glutathione disulfide, and loss of a single protein, probably a gamma-crystallin, as revealed by isoelectric focusing (J:7589, J:23992).
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| References |
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Original: |
J:7589
Graw J et al.,
"Genetical and biochemical studies of a dominant cataract mutant in mice."
Exp Eye Res 1984 Jul;39(1):37-45
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All: |
6 reference(s)
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Analysis Tools
