The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice.

Journal Article

Retinitis pigmentosa is a retinal degenerative disease that leads to blindness through photoreceptor loss. Rhodopsin is the most frequently mutated protein in this disease. While many rhodopsin mutations have well-understood consequences that lead to cell death, the disease association of several rhodopsin mutations identified in retinitis pigmentosa patients, including F220C and F45L, has been disputed. In this study, we generated two knockin mouse lines bearing each of these mutations. We did not observe any photoreceptor degeneration in either heterozygous or homozygous animals of either line. F220C mice exhibited minor disruptions of photoreceptor outer segment dimensions without any mislocalization of outer segment proteins, whereas photoreceptors of F45L mice were normal. Suction electrode recordings from individual photoreceptors of both mutant lines showed normal flash sensitivity and photoresponse kinetics. Taken together, these data suggest that neither the F220C nor F45L mutation has pathological consequences in mice and, therefore, may not be causative of retinitis pigmentosa in humans.

Full Text

Duke Authors

Cited Authors

  • Lewis, TR; Shores, CR; Cady, MA; Hao, Y; Arshavsky, VY; Burns, ME

Published Date

  • May 5, 2020

Published In

Volume / Issue

  • 10 / 1

Start / End Page

  • 7538 -

PubMed ID

  • 32371886

Pubmed Central ID

  • 32371886

Electronic International Standard Serial Number (EISSN)

  • 2045-2322

Digital Object Identifier (DOI)

  • 10.1038/s41598-020-64437-y


  • eng

Conference Location

  • England