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J Zuo, A Fernandez-Gonzalez, A La Spada, J Treadaway, JC Higdon, BS Harris, BL Sopher, RA Martinez, RL Sidman, JI Morgan; Identification of the Gene Responsible for Retinal Photoreceptor Degeneration in Purkinje Cell Degeneration (pcd) Mutant Mice . Invest. Ophthalmol. Vis. Sci. 2002;43(13):3661.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To identify the gene responsible for photoreceptor degneration in the classical recessive mutant mouse, Purkinje cell degeneration (pcd). Methods: Here we report the phenotypic characterization, genetic mapping and identification of mutations in four pcd alleles (pcd1J, pcd2J, pcd3J and pcdsid). Results: The pcd mouse exhibits prominent adult-onset degeneration of cerebellar Purkinje cells, retinal photoreceptors, thalamic and olfactory bulb neurons and has defective spermatogenesis. In retina, the first signs of photoreceptor degeneration in pcd mice include a large number of extracellular vesicles adjacent to inner segments during the third postnatal week. This unique feature of photoreceptor degeneration has been found in five other mutant mouse strains exhibiting transient vesicle accumulation in photoreceptor inner segments: rds, tubby, tubp1, P347S rho transgenic, and kinesin-II null mice. The progressive degeneration of photoreceptors in pcd mice resembles that seen in late onset retinitis pigmentosa (RP). Conclusion: These studies elucidate novel mechanisms underlying photoreceptor degenerative diseases in humans and mice.
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