Fig. 1: Early cone dysfunction and degeneration in the rd12 mouse due to a loss-of-function mutation in Rpe65.

a The rd12 mouse model has an inherent nonsense mutation (C•G to T•A) in exon 3 of the Rpe65 gene, resulting in truncated, nonfunctional RPE65 protein. The deficiency of functional RPE65 in rd12 mice impairs the production of 11-cis-retinal (11cRAL) by a blockade of conversion from all-trans-retinyl ester (atRE) into 11-cis-retinol (11cROL), and contributes to early cone cell death. b Retinal flatmounts from 3-week-old and 6-week-old wild-type (upper) and rd12 (lower) mice, labeled with M-opsin (green) and S-opsin (purple) antibodies. The retina is oriented with the dorsal region towards the top and the ventral region towards the bottom. Scale bar, 1 mm. c Retinal cryosections representing the dorsal region from a 6-week-old wild-type (WT) mouse (left), 3-week-old rd12 mouse (middle), and 6-week-old rd12 (right) mouse, labeled with M-opsin (green) antibody. d Retinal cryosections representing the ventral region from the same eyes in c, labeled with S-opsin (purple) antibody. DAPI, blue. OS outer segment, IS inner segment, ONL outer nuclear layer. Scale bar, 20 μm.