Genetical and biochemical studies of a dominant cataract mutant in mice

Exp Eye Res. 1984 Jul;39(1):37-45. doi: 10.1016/0014-4835(84)90112-x.

Abstract

A spontaneous mutation causing a nuclear opacity of the lens of the eye was detected among (101 X C3H) F1 hybrid mice. The nuclear opacity, provisional gene symbol Nop, is inherited as a single autosomal dominant gene. Penetrance on the genetic background of the 101-strain is complete. Heterozygotes and homozygotes are viable and fertile. The amount of protein after centrifugation at 3000 g is reduced in the cataractous lens. After isoelectric focusing a band at pH 8.5 in the protein pattern is missing. The glutathione redox-state of the cataractous lens is also affected. The amount of oxidized glutathione relative to the total amount of glutathione is increased from 2.7 to 7.8% in the Nop/ + mutant (P less than 0.01). Enzyme activities connected with the glutathione redox-cycle (glutathione peroxidase, glutathione reductase, glucose-6-phosphate dehydrogenase) are not affected. The activities of some glycolytic enzymes, phosphoglycerate kinase, glyceraldehyde-phosphate dehydrogenase, phosphoglyceromutase and triosephosphate isomerase are reduced (P less than 0.05). However, the concentration of ATP in the cataractous lens is unchanged.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cataract / enzymology
  • Cataract / genetics*
  • Cataract / metabolism
  • Crystallins / metabolism
  • Genes, Dominant
  • Glutathione / metabolism
  • Lens, Crystalline / enzymology
  • Lens, Crystalline / metabolism
  • Mice
  • Mice, Mutant Strains
  • Mutation
  • Oxidation-Reduction

Substances

  • Crystallins
  • Glutathione