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

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)