| Primary Identifier | MGI:102495 | Organism | mouse, laboratory |
| Chromosome | MT | NCBI Gene Number | 17722 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in brain; early conceptus; and secondary oocyte. Used to study Leber hereditary optic neuropathy and lactic acidosis. Human ortholog(s) of this gene implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominant 2B. Orthologous to human MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6). PHENOTYPE: Mice homoplastic for mitochondria containing a point mutation allele exhibit decreased mitochondrial oxidation and elevated lactate serum levels. Mice with mitochondria containing an insertion exhibit decreased mitochondrial oxidation. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
