Primary Identifier | MGI:1918041 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 70791 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable RNA binding activity; histidine-tRNA ligase activity; and identical protein binding activity. Predicted to be involved in histidyl-tRNA aminoacylation. Located in mitochondrion. Is expressed in heart ventricle and lung. Human ortholog(s) of this gene implicated in Perrault syndrome. Orthologous to human HARS2 (histidyl-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 embryonic lethality by E9.5. [provided by MGI curators] |