| Primary Identifier | MGI:95408 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 13857 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables erythropoietin receptor activity. Involved in erythropoietin-mediated signaling pathway. Acts upstream of or within several processes, including brain development; decidualization; and heart development. Is active in plasma membrane. Is expressed in several structures, including egg cylinder; embryo mesenchyme; genitourinary system; germ layer; and heart and pericardium. Used to study familial erythrocytosis 1. Human ortholog(s) of this gene implicated in anemia; familial erythrocytosis 1; high grade glioma; polycythemia; and systemic lupus erythematosus. Orthologous to human EPOR (erythropoietin receptor). PHENOTYPE: Mutations in this locus affect erythropoiesis. Null mutants die at E11-12.5 with severe anemia. Mutants with truncated alleles are viable with mild changes in erythropoiesis. A human mutation replacement allele produces polycythemia. A hypoactive allele causes a retinal phenotype and impaired response to oxygen-induced retinal injury. [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
