Primary Identifier | MGI:97394 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 18242 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; ornithine aminotransferase activity; and pyridoxal phosphate binding activity. Predicted to be involved in arginine catabolic process to glutamate and arginine catabolic process to proline via ornithine. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; integumental system; respiratory system; and sensory organ. Used to study gyrate atrophy. Human ortholog(s) of this gene implicated in gyrate atrophy. Orthologous to human OAT (ornithine aminotransferase). PHENOTYPE: Null mutants show neonatal hypoornithinemia and increased mortality prevented by administering arginine. Homozygotes for a spontaneous G353A point mutation have neonatal hypoornithinemia, adult hyperornithinemia, growth retardation, retarded fur development, cataracts, and retinal degeneration. [provided by MGI curators] |