A Murine Rp1 Missense Mutation Causes Protein Mislocalization and Slowly Progressive Photoreceptor Degeneration

Mutations in the RP1 gene can cause retinitis pigmentosa. We identified a spontaneous L66P mutation caused by two adjacent point mutations in the Rp1 gene in a colony of C57BL/6J mice. Mice homozygous for the L66P mutation exhibited slow, progressive photoreceptor degeneration throughout their lifes...

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Detalhes bibliográficos
Main Authors: Song, Delu, Grieco, Steve, Li, Yafeng, Hunter, Allan, Chu, Sally, Zhao, Liangliang, Song, Ying, DeAngelis, Robert A., Shi, Lan-Ying, Liu, Qin, Pierce, Eric A., Nishina, Patsy M., Lambris, John D., Dunaief, Joshua L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2014
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4188862/
https://ncbi.nlm.nih.gov/pubmed/25088982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2014.06.010
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