Mapping of genetic modifiers affecting the eye phenotype of ocular retardation (Chx10 or-J ) mice

Mapping of genetic modifiers affecting the eye phenotype of ocular retardation (Chx10 or-J ) mice 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

Mapping of genetic modifiers affecting the eye phenotype of ocular retardation (Chx10 or-J ) mice

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Publisher
Springer Journals
Copyright
Copyright © 2006 by Springer Science+Business Media, Inc.
Subject
Life Sciences; Anatomy; Zoology; Cell Biology
ISSN
0938-8990
eISSN
1432-1777
D.O.I.
10.1007/s00335-005-0159-z
Publisher site
See Article on Publisher Site

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.

Journal

Mammalian GenomeSpringer Journals

Published: Jun 12, 2006

References

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