Primary Identifier | MGI:1915084 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 67834 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable isocitrate dehydrogenase (NAD+) activity and magnesium ion binding activity. Predicted to be involved in NADH metabolic process; carboxylic acid metabolic process; and tricarboxylic acid cycle. Located in mitochondrion and myelin sheath. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in retinitis pigmentosa 90. Orthologous to human IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive retinal degeneration and decreased visual acuity. Homozygous KO is early embryonic lethal. [provided by MGI curators] |