Crygb<Nop> Spontaneous Allele Detail MGI Mouse (MGI:1857597)

Crygb^Nop
Spontaneous Allele Detail

Summary

Symbol:	Crygb^Nop
Name:	crystallin, gamma B; nuclear opacity
MGI ID:	MGI:1857597
Synonyms:	Cat2^no, Crygb^Cat2-nop, Nop
Gene:	Crygb Location: Chr1:65119381-65121449 bp, - strand Genetic Position: Chr1, 32.82 cM
Alliance:	Crygb^Nop page

Mutation
origin

Strain of Origin:

(101/El x C3H/El)F1

Mutation
description

Allele Type:		Spontaneous
Mutations:		Insertion, Intragenic deletion
		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)
Inheritance:		Dominant

Phenotypes

View phenotypes and curated references 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: 1 strain available Cell Lines: 0 lines available
Carrying any Crygb Mutation:	15 strains or lines available

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).

References

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:	7 reference(s)

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