Samardzija M Barben M Geiger P Grimm C 2016 RPE65 is essential for both rod- and cone-mediated vision. So far, more than 120 disease-associated mutations have been identified in the human RPE65 gene. Differential clinical manifestations suggested that some patients suffer from null mutations while others retain residual RPE65 activity and some useful vision. To understand the mechanism of retinal degeneration or dysfunction caused by such hypomorphic RPE65 alleles, we generated an Rpe65 (R91W) knock-in mouse (R91W) that expresses a mutant RPE65 protein with reduced function. Data obtained suggested that the R91W mouse is highly suitable to study the impact of RPE65 insufficiency on rod pathophysiology. To study the impact on cones, we combined the R91W with the Nrl (-/-) mouse that develops an all-cone retina. Here we summarize the consequences of hypomorphic RPE65 function (reduced 11-cis-retinal synthesis) for rod and cone pathophysiology. https://sonar.ch/global/documents/96935 eng info:eu-repo/semantics/altIdentifier/doi/10.1007/978-3-319-17121-0_45 info:eu-repo/semantics/altIdentifier/pmid/26427430 Advances in experimental medicine and biology. - 2016 Blindness Cones Degeneration Dystrophy Mouse model Nrl Photoreceptors R91W RPE65 Retina Animals Basic-Leucine Zipper Transcription Factors Disease Models, Animal Electroretinography Eye Proteins Humans Mice, Knockout Mice, Transgenic Mutation, Missense Retinal Cone Photoreceptor Cells Retinal Degeneration Retinal Rod Photoreceptor Cells cis-trans-Isomerases The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors. http://purl.org/coar/resource_type/c_6501