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Spontaneous Allele Detail
Symbol: CrygbNop
Name: crystallin, gamma B; nuclear opacity
MGI ID: MGI:1857597
Synonyms: Cat2no, CrygbCat2-nop, Nop
Gene: Crygb  Location: Chr1:65080219-65082288 bp, - strand  Genetic Position: Chr1, 32.82 cM
Strain of Origin:  (101/El x C3H/El)F1
Allele Type:    Spontaneous
Mutations:    Insertion, Intragenic deletion
Mutation detailsAn 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)
Inheritance:    Dominant
View phenotypes for all genotypes (concatenated display).
Disease models
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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 Crygb Mutation:  2 strains or lines available
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).

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
All:  6 reference(s)

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last database update
MGI 6.01
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