Human Disease and Mouse Model Detail

Human Disease

Term: Gyrate Atrophy of Choroid and Retina; GACR
OMIM ID: 258870

Synonyms

Gyrate Atrophy; Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; HOGA; OAT Deficiency; OKT Deficiency; Ornithine Aminotransferase Deficiency; Ornithine-Delta-Aminotransferase Deficiency; Ornithine Keto Acid Aminotransferase Deficiency

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Oat

OAT

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Oat^tm1Dva/Oat^tm1Dva		involves: 129S7/SvEvBrd * C57BL/6J	J:29269
Oat^tm1Dva/Oat^tm1Dva		involves: 129S7/SvEvBrd	J:60200

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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