| 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 7.1.0) Predicted to enable erythropoietin receptor activity and identical protein binding activity. Acts upstream of or within several processes, including brain development; decidualization; and heart development. Predicted to be located in cell surface; nuclear speck; and plasma membrane. Predicted to be active in external side of 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
