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Publication : Genetic modifiers of the ocular retardation pehnotype

First Author  Burmeister M Year  2005
Journal  MGI Submission Mgi Jnum  J:96058
Mgi Id  MGI:3529220 Citation  Burmeister M, et al. (2005) Genetic modifiers of the ocular retardation pehnotype. MGI Submission
abstractText  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 Chx10or-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 Chx10or-J mutation, yet showed a much milder phenotype. Such animals were crossed to each other and selected for mild phenotype. After 6 generations of selection, partial recovery of visual function was observed, including presence of an optic nerve and pupillary response (Bone-Larson et al., 2000). Here, we have performed a genome scan to identify the genetic loci effecting this phenotype modification. Our scan revealed two significant loci on chromosomes 6 and 14 where the CASA/Rk alleles are maintained selectively. Markers were developed near retinal candidate genes, but none of the linkage regions peak on a known candidate gene.
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