Phenotypes for Oat MGI:3719126 MGI Mouse

abnormal circulating amino acid level ( J:60200 )

• mutants that have been rescued with arginine supplementation for the first two weeks of life and then placed on a standard chow diet, exhibit a 13-fold increase in plasma ornithine levels and mean plasma lysine that is about 50% of controls

• mutants placed on an arginine-restricted diet after the arginine rescue have normal plasma amino acid levels

abnormal retina morphology ( J:60200 )

disorganized photoreceptor inner segment ( J:60200 )

• photoreceptor inner segments are highly disorganized in mutants on a standard diet

short photoreceptor inner segment ( J:60200 )

• photoreceptor inner segments are shortened in mutants on a standard diet

absent photoreceptor outer segment ( J:60200 )

• photoreceptor outer segments are virtually absent in mutants on a standard diet

abnormal retina pigment epithelium morphology ( J:60200 )

• in mutants on a standard diet, most retinal pigment epithelium (RPE) cells lose their basal infoldings and have greatly reduced apical microvilli, some are swollen and engorged with lipid inclusions, others contain clusters of small electron dense granules with the fine structure of glycogen

thin retina outer nuclear layer ( J:60200 )

• the outer nuclear layer is reduced to 2-3 layers of nuclei, instead of the normal 9-10 layers, in mutants on a standard diet

retina degeneration ( J:60200 )

• mutants on a standard diet after the initial arginine supplementation exhibit severe retinal degeneration

• however, mutants placed on an arginine-restricted diet exhibit normal retinas

abnormal eye electrophysiology ( J:60200 )

• mutants on a standard diet with hyperornithinemia exhibit a gradual reduction in ERG amplitude beginning at around 4 months of age

• however, mutants on an arginine-restricted diet that have near normal levels of ornithine plasma levels have normal ERG amplitudes