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Article

Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.

Nature genetics - 1 Oct 1995

Wang T, Lawler A M, Steel G, Sipila I, Milam A H, Valle D

Abstract excerpt

Deficiency of ornithine-delta-aminotransferase (OAT) in humans causes hyperornithinaemia and gyrate atrophy (GA), a blinding chorioretinal degeneration. Surprisingly, OAT-deficient mice produced by gene targeting exhibit neonatal hypoornithinaemia and lethality, rescuable by short-term arginine supplementation. Post-weaning, these mice develop hyperornithinaemia similar to human GA patients. Subsequent studies in...

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Identifiers

PMID: 7550347
DOI: 10.1038/ng1095-185

Genes

OAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.PMID 7550347Read ↗

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.Semantic proximity Read ↗

Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.Semantic proximity Read ↗

Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration.Semantic proximity Read ↗

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.Semantic proximity Read ↗

Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.Semantic proximity Read ↗

A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female.Semantic proximity Read ↗

Finnish gyrate atrophy mutation OAT;c.1205C>T leads to accumulation of intracellular GABASemantic proximity Read ↗

Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.Semantic proximity Read ↗

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophySemantic proximity Read ↗

First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.Semantic proximity Read ↗

Mild Phenotypes of Gyrate Atrophy in a Carrier with One Variant Allele of <em>OAT</em>Semantic proximity Read ↗

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).Semantic proximity Read ↗

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