Phenotypes for Abca4 Rdh8 MGI:4410294 MGI Mouse

choroidal neovascularization ( J:154536 )

• choroidal neovascularization in 22.2% (2/9) of the eyes

• no choroidal neovascularization in the eyes of sirolimus-treated mice

abnormal retina photoreceptor morphology ( J:154536 )

decreased retina photoreceptor cell number ( J:154536 )

• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively

decreased retina cone cell number ( J:154536 )

• reduced number of cone photoreceptors

• retinylamine treatment largely preserve cone photoreceptors

• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine

abnormal retina pigment epithelium morphology ( J:154536 )

• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age

• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age

• disrupted inner membrane cristae in RPE cells at 5 months of age

abnormal retina pigmentation ( J:154536 )

• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age

• di-retinoidpyridinium-ethanolamine (A2E) accumulation

• retinylamine significantly decreased A2E accumulation

thin retina outer nuclear layer ( J:154536 )

• severely reduced outer nuclear layer

retina degeneration ( J:154536 )

• early retinal degeneration is detected by 6 to 8 weeks of age in mice kept in dim room light (3-5 lux)

• reduced lengths of photoreceptor outer segments (less than 5 micrometers)

• antioxidant, 9cRAc, retinylamine and sirolimus treatment have efficacy in preventing retinal degeneration

retina deposits ( J:154536 )

• hyaline-like deposits in the rosette structure in 3- to 5-month-old mutant mice

abnormal Bruch membrane morphology ( J:154536 )

• complement deposition on Bruch's membrane

• reduced complement deposition in antioxidant, 9cRAc, and sirolimus-treated mice

• no complement deposition in retinylamine-treated mice

abnormal eye electrophysiology ( J:154536 )

abnormal cone electrophysiology ( J:154536 )

• reduced a- and b-wave amplitudes

• both a- and b-wave amplitudes are maintained significantly better in antioxidant, 9cRAc, retinylamine and sirolimus-treated mice

abnormal rod electrophysiology ( J:154536 )

• reduced Flicker ERG responses

• responses of some antioxidant- and 9cRAc-treated mice are significantly retained after both 20- and 30-Hz stimuli