Primary Identifier | MGI:1928137 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 64655 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be a structural constituent of ribosome. Predicted to be involved in mitochondrial translation. Located in mitochondrion. Is expressed in several structures, including central nervous system; early conceptus; reproductive system; retina; and spleen. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 5 and ovarian dysgenesis 7. Orthologous to human MRPS22 (mitochondrial ribosomal protein S22). PHENOTYPE: Homozygous inactivation of this gene results in prenatal lethality. 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] |