| Primary Identifier | MGI:1889575 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 56417 |
| 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 adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Involved in several processes, including adenosine to inosine editing; negative regulation of protein kinase activity by regulation of protein phosphorylation; and positive regulation of viral genome replication. Acts upstream of or within several processes, including hematopoietic stem cell homeostasis; hemopoiesis; and regulation of gene expression. Located in cytoplasm and nucleolus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study Aicardi-Goutieres syndrome. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome; Human papillomavirus infectious disease; dyschromatosis symmetrica hereditaria; and liver cirrhosis. Orthologous to human ADAR (adenosine deaminase RNA specific). PHENOTYPE: Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. Compound heterozygosity for the p.P195A mutation and KO affects liver, kidney and spleen, leading to low weight and severely shortening survival. [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
