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B. Chang, N.L. Hawes, R.E. Hurd, J. Wang, M.T. Davisson, S. Nusinowitz, J.R. Heckenlively; A New Mouse Model of Retinal Degeneration (rd13) . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3173.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To report the clinical appearance, histology, and chromosomal localization of a new hereditary model of retinal degeneration. Methods: While screening mouse strains and stocks at The Jackson Laboratory for genetic mouse models of human ocular disorders, we have identified a new mouse retinal degeneration (allele symbol: rd13). The phenotype was documented using electroretinography, histology, and fundus photography, while the genetic characterization and linkage analysis were performed using linkage studies and gene identification. Results: Mice homozygous for rd13 show retinal degeneration with white retinal vessels at one month of age. Histology at 3 weeks of age shows retinal degeneration. Electroretinograms of rd13/rd13 mice are never normal. The maximal response occurs at 3 weeks of age and is nondetectable at two months of age. The inheritance pattern of rd13 mutant allele is autosomal recessive. Linkage studies mapped this new mutation to mouse Chromosome 10, in a region between markers D10Mit96 and D10Nds2, suggesting the human homolog may be on chromosome 12q22. Conclusions: The early onset of retinal degeneration combined with our genetic data suggest that this is a new mutation not previously described in mouse or human. Retinal degeneration 13 (rd13) may provide a novel mouse model for pathogenesis of autosomal recessive retinitis pigmentosa (arRP) in human.
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