Fig. 6

The variant R274G rescued retinal blood vessel numbers and thickness. P28 Nr2e1 ^+/+ and Nr2e1 ^frc/frc controls, and Nr2e1 ^frc/frc mice harboring a human NR2E1 or R274G BAC single-copy knock-in at the Hprt locus were studied. a Fundus pictures showing reduced blood vessel numbers and abnormal morphology of Nr2e1 ^frc/frc mice, similar to previous reports [10, 47], and apparent rescue of this defect by both NR2E1 and the variant R274G. b Quantification of retinal blood vessels showing a reduction in Nr2e1 ^frc/frc retinas compared to wild-type numbers. NR2E1 and the variant R274G rescued this defect. c Paraffin-embedded eyes were sectioned at 5 μm thickness. Central sections containing the optic nerve were stained with H and E. Representative retinal pictures are depicted showing very thin retinas in Nr2e1 ^frc/frc mice and apparent rescue of this defect by NR2E1 and the variant R274G. d Quantification of retinal thickness showed a high reduction in Nr2e1 ^frc/frc retinas compared to wild-type and a rescue of this defect by NR2E1 and the variant R274G. Error bars, standard error of the mean; GCL, ganglion cell layer; INL, inner nuclear layer; ns, no significant; ON, optic nerve; ONL, outer nuclear layer; P#, postnatal day #; *, p < 0.001. n = 6 (12 eyes)