| Primary Identifier | MGI:1342771 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 16596 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in erythrocyte differentiation; positive regulation of gene expression; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including hemopoiesis; in utero embryonic development; and liver development. Predicted to be located in chromatin and nucleoplasm. Is expressed in several structures, including extraembryonic component; hemolymphoid system; olfactory placode; testis; and urethra. Used to study beta thalassemia and hereditary spherocytosis. Human ortholog(s) of this gene implicated in congenital dyserythropoietic anemia type IVa. Orthologous to human KLF1 (KLF transcription factor 1). PHENOTYPE: Nullizygous mice exhibit fatal anemia due to impaired hemopoiesis in fetal liver. Homozygotes for an ENU-induced allele die at E10-11 with severely impaired hemopoiesis while surviving heterozygotes show hemolytic anemia with reduced RBC counts, hematocrit and hemoglobin, and altered RBC morphology. [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
