Proteomic characterization of a preclinical murine model of autosomal recessive retinitis pigmentosa (arRP)

Published: 4 September 2019| Version 1 | DOI: 10.17632/vn5c8zh5wd.1
Gabriel Velez,


Mutations in PDE6 contribute to a significant fraction of retinitis pigmentosa (RP) cases (7-9%; OMIM: 180071) (Tsang, Tsui et al., 2008). The Pde6ɑ (D670G) mouse phenotype closely resembles that of patients with autosomal recessive retinitis pigmentosa (arRP). These mice develop early onset severe retinal degeneration, characterized by photoreceptor death, retinal vessel attenuation, pigmented patches, ERG abnormalities, and white retinal spotting (Wert, Sancho-Pelluz et al., 2014). The mice display a loss of rod photoreceptor visual function by ERG analysis as early as one month of age and full loss of global visual function on ERG analysis by two months of age. Retina and vitreous samples were collected from these mice at disease onset (P15), mid-stage (P30) and late-stage disease (P90). Retina and vitreous samples for wild-type and Pde6ɑ (D670G) mice were trypsinized and underwent LC-MS/MS analysis.



Columbia University, University of Iowa, Stanford University


Ophthalmology, Mass Spectrometry, Proteomics, Ophthalmic Disorder, Mouse Model