Genetic modification of retinal degeneration in tubby mice.
Document Type
Article
Publication Date
2002
Keywords
Crosses-Genetic, Mice-Inbred-AKR, Mice-Inbred-C57BL, Mutation, Photoreceptors-Vertebrate, Proteins, Quantitative-Trait-Heritable, Retinal-Degeneration
First Page
455
Last Page
461
JAX Source
Exp Eye Res 2002 Apr; 74(4):455-61.
Abstract
Mice that carry the recessive mutation tub develop neurosensory defects including retinal and cochlear degeneration, as well as maturity-onset obesity associated with insulin resistance. The biological function of the gene and the mechanism by which it induces its phenotypes are still unclear. In order to elucidate the pathways through which tub functions, in the current study, QTL modifiers were identified in an F2 intercross between (C57BL/6J- tub/tub and AKR/J-+/+) F1 hybrids (AKR intercross). The thickness of the outer nuclear layer of the retina and the number of photoreceptor nuclei were assessed in F2 mice homozygous for the tub mutation. A genome-wide scan revealed a significant linkage on chromosome 11 (named motr1) and two suggestive linkages on chromosomes 2 and 8. Interestingly, the same chromosome 2 region identified for the hearing modifier of tubby, the moth1 locus, showed a peak lod score of 2.3 for protection from retinal degeneration. This result suggests that the gene responsible for the QTL on chromosome 2 might be involved in a common pathway through which retinal and cochlear degeneration are induced in tubby mice.
Recommended Citation
Ikeda A,
Naggert JK,
Nishina PM.
Genetic modification of retinal degeneration in tubby mice. Exp Eye Res 2002 Apr; 74(4):455-61.