Primary Identifier | MGI:1916413 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 69163 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable double-stranded RNA binding activity and ribonuclease III activity. Predicted to be involved in mitochondrial translational elongation. Predicted to be located in mitochondrion; nuclear body; and plasma membrane. Predicted to be part of mitochondrial large ribosomal subunit. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; sensory organ; and spleen. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 16. Orthologous to human MRPL44 (mitochondrial ribosomal protein L44). 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, abnormal mitochondrial morphology and physiology, and complete lethality prior to organogenesis. [provided by MGI curators] |