Regular ArticleNew Mouse Primary Retinal Degeneration (rd-3)
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Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase
2021, Journal of Biological ChemistryCitation Excerpt :RD3 inhibits the RetGC1 and RetGC2 basal activity and also prevents RetGC activation by GCAPs (23, 24) (Fig. 9A). Studying murine models in vivo (24, 25) indicated that activation of RetGC by GCAPs, most likely in the inner segment, was the major reason that Rd3−/− photoreceptors begin to rapidly degenerate soon after completing their differentiation (36) (Fig. 9B). Deletion of the two GCAP isoforms dramatically rescued Rd3−/− photoreceptors from degeneration (25–27).
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
2018, Progress in Retinal and Eye ResearchCitation Excerpt :A nonsense mutation in RD3 leading to protein truncation was reported to be the cause of LCA12 (Friedman et al., 2006). Mutations in rd3 were found in a naturally occurring mouse strain in 1969 (Chang et al., 1993, 2002) which became recognized as a model for retinal degeneration. Photoreceptors of rd3 mice appear normal at birth, but can degenerate nearly completely within 8 weeks and ERG amplitudes diminish within the same time scale.
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
2017, Progress in Retinal and Eye ResearchcGMP Signaling in Photoreceptor Degeneration
2023, International Journal of Molecular SciencesPreclinical Models of Retinitis Pigmentosa
2023, Methods in Molecular Biology