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Phenotypes Associated with This Genotype
Genotype
MGI:3719126
Allelic
Composition
Oattm1Dva/Oattm1Dva
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Oattm1Dva mutation (0 available); any Oat mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Retinal histopathology of Oattm1Dva/Oattm1Dva mice

homeostasis/metabolism
• 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

vision/eye
• photoreceptor inner segments are highly disorganized in mutants on a standard diet
• photoreceptor inner segments are shortened in mutants on a standard diet
• photoreceptor outer segments are virtually absent in mutants on a standard diet
• 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
• 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
• 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
• 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

pigmentation
• 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

nervous system
• photoreceptor inner segments are highly disorganized in mutants on a standard diet
• photoreceptor inner segments are shortened in mutants on a standard diet
• photoreceptor outer segments are virtually absent in mutants on a standard diet

Mouse Models of Human Disease
OMIM ID Ref(s)
Gyrate Atrophy of Choroid and Retina; GACR 258870 J:60200


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory