Mapping of genetic modifiers affecting the eye phenotype of ocular retardation (Chx10or-J) mice

Mamm Genome. 2006 Jun;17(6):518-25. doi: 10.1007/s00335-005-0159-z. Epub 2006 Jun 12.

Abstract

Ocular retardation is a recessive murine mutation whose phenotypic expression is greatly affected by genetic background effects. Mice of the inbred 129/SvJ background that are homozygous for the Chx10(or-J) mutation are blind and have a thin, poorly differentiated retina and no optic nerve. A backcross between 129/SvJ and Mus musculus castaneus (CASA/Rk) produced animals that were homozygous for the Chx10(or-J) mutation, yet showed a much milder phenotype. Such animals, when brother-sister mated and selected for mild phenotype for several generations, resulted in partial recovery of visual function, including presence of an optic nerve and pupillary response. In this article we report a genome scan of phenotypic extremes of the backcross to identify the genetic loci affecting this phenotype modification. Our scan revealed significant loci on Chromosomes 6 and 14 where the CASA/Rk alleles are maintained selectively. Markers were developed near candidate genes, but no candidate gene could be identified unequivocally.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Chromosome Mapping*
  • Crosses, Genetic
  • Eye Abnormalities / genetics*
  • Genetic Linkage
  • Homeodomain Proteins / genetics*
  • Mice
  • Phenotype*
  • Quantitative Trait Loci
  • Transcription Factors / deficiency
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • Transcription Factors
  • Vsx2 protein, mouse