| Primary Identifier | MGI:1344375 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 23992 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including RNA binding activity; protein homodimerization activity; and protein kinase activator activity. Acts upstream of or within several processes, including cellular response to oxidative stress; ear morphogenesis; and positive regulation of intrinsic apoptotic signaling pathway. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of RISC complex and RISC-loading complex. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including 4-cell stage embryo; central nervous system; olfactory epithelium; and retina. Human ortholog(s) of this gene implicated in dystonia 16. Orthologous to human PRKRA (protein activator of interferon induced protein kinase EIF2AK2). PHENOTYPE: Mice homozygous for a deletion of the entire gene show embryonic lethality prior to implantation. Mice homozygous for a deletion in the last exon are viable but exhibit small size, turbinate hypoplasia, short snout, severe microtia, outer and middle ear defects, and impaired hearing. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
