Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration | Zendy

John J. Graziotto | Zendy; Michael H. Farkas | Zendy; Kinga M. Bujakowska | Zendy; Bertrand M.J.M. Deramaudt | Zendy; Qí Zhāng | Zendy; Emeline F. Nandrot | Zendy; Chris F. Inglehearn | Zendy; Shomi S. Bhattacharya | Zendy; Eric A. Pierce | Zendy

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Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration

Author(s) -

John J. Graziotto,

Michael H. Farkas,

Kinga M. Bujakowska,

Bertrand M.J.M. Deramaudt,

Qí Zhāng,

Emeline F. Nandrot,

Chris F. Inglehearn,

Shomi S. Bhattacharya,

Eric A. Pierce

Publication year - 2010

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.10-5194

Subject(s) - retinitis pigmentosa , biology , retinal degeneration , phenotype , genetics , retinal , rna splicing , knockout mouse , haploinsufficiency , mutation , microbiology and biotechnology , gene , rna , biochemistry

Mutations in genes that produce proteins involved in mRNA splicing, including pre-mRNA processing factors 3, 8, and 31 (PRPF3, 8, and 31), RP9, and SNRNP200 are common causes of the late-onset inherited blinding disorder retinitis pigmentosa (RP). It is not known how mutations in these ubiquitously expressed genes lead to retina-specific disease. To investigate the pathogenesis of the RNA splicing factor forms of RP, the authors generated and characterized the retinal phenotypes of Prpf3-T494M, Prpf8-H2309P knockin mice. The retinal ultrastructure of Prpf31-knockout mice was also investigated.

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