Primary Identifier | MGI:2444136 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 212679 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable methionine-tRNA ligase activity. Predicted to be involved in methionyl-tRNA aminoacylation. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and integumental system. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 25 and spastic ataxia 3. Orthologous to human MARS2 (methionyl-tRNA synthetase 2, mitochondrial). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. [provided by MGI curators] |