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 8.0.0) Predicted to enable isocitrate dehydrogenase (NAD+) activity and magnesium ion binding activity. Predicted to be involved in isocitrate 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] |