| Primary Identifier | MGI:95661 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 14460 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; p53 binding activity; and transcription coactivator binding activity. Involved in several processes, including platelet aggregation; regulation of definitive erythrocyte differentiation; and regulation of protein metabolic process. Acts upstream of or within several processes, including hemopoiesis; positive regulation of osteoblast proliferation; and regulation of primitive erythrocyte differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and mesenchyme derived from lateral plate. Used to study myelodysplastic syndrome and myelofibrosis. Human ortholog(s) of this gene implicated in several diseases, including X-linked recessive disease (multiple); beta thalassemia; colon adenocarcinoma; depressive disorder; and hematologic cancer (multiple). Orthologous to human GATA1 (GATA binding protein 1). PHENOTYPE: Mutation of this locus affects hematopoiesis. Most hemizygous mutant males mice die at mid-gestation and exhibit blocked erythroid development. Female null and hypomorphic mutants survive birth but exhibit varying degrees of anemia and impaired hematopoiesis. [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
