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Allele : Crygb<Nop> crystallin, gamma B; nuclear opacity

Primary Identifier  MGI:1857597 Allele Type  Spontaneous
Gene  Crygb Inheritance Mode  Dominant
Strain of Origin  (101/El x C3H/El)F1 Is Recombinase  false
Is Wild Type  false
description  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).
molecularNote  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.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Nop,
  • Nop,
  • Cat2<no>,
  • Cat2<no>,
  • Crygb<Cat2-nop>,
  • Crygb<Cat2-nop>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

8 Publication categories