Primary Identifier | MGI:2385133 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 227715 |
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. Predicted to be involved in RNA metabolic process and positive regulation of cell growth. Predicted to be located in cytosol; nucleolus; and nucleoplasm. Predicted to be part of cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Is expressed in several structures, including cerebral cortex; gonad; liver; metanephros; and muscle tissue. Human ortholog(s) of this gene implicated in short stature, hearing loss, retinitis pigmentosa, and distinctive facies. Orthologous to human EXOSC2 (exosome component 2). PHENOTYPE: Embryos homozygous for a knock-out allele form a morphologically normal blastocyst but show peri-implantation lethality, improper inner cell mass lineage differentiation, failure of blastocyst to hatch from the zona pellucida, and failure of embryo implantation. [provided by MGI curators] |