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NL Hawes, B Chang, RE Hurd, S Nusinowitz, JR Heckenlively, MT Davisson; A New Mouse Model of Retinal Degeneration (rd11) . Invest. Ophthalmol. Vis. Sci. 2002;43(13):3669.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To characterize the genetics and phenotype of a new mouse mutant with retinal degeneration, rd11, that is associated with retinal vessel attenuation and retinal degeneration seen ophthalmoscopically. Methods: While screening mouse strains and stocks at The Jackson Laboratory for genetic mouse models of human ocular disorders, we have identified a unique mouse retinal degeneration (rd11). The phenotype was characterized using serial indirect ophthalmoscopy, fundus photography, electroretinography (ERG), and histology. Genetic characterization and linkage analysis studies were performed using standard methods. Results: Mice homozygous for the rd11 mutation show a clinical retinal degeneration with white retinal vessels at 4 weeks of age. Histology at 3 weeks of age shows retinal degeneration. Electroretinograms of rd11/rd11 mice are never normal. The maximal response occurs at 3 weeks of age and is nondetectable at 2 months of age. Genetic analysis shows that this disorder is caused by an autosomal recessive mutation that maps to mouse Chromosome 13 approximately 40 cM from the centromere, suggesting that the human homolog may be on Chromosome 5p15 or 7q35. Conclusion: The rd11 mutation is a new autosomal recessive retinal degeneration in mice and may provide a good model for studying the pathogenesis of autosomal recessive retinitis pigmentosa (arRP) in human.
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