| Primary Identifier | MGI:103170 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 14581 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity. Involved in cellular response to lipopolysaccharide; negative regulation of NF-kappaB transcription factor activity; and negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including inner ear development; mechanosensory behavior; and regulation of cell fate specification. Predicted to be located in nuclear body and nuclear matrix. Predicted to be part of transcription repressor complex. Is expressed in several structures, including aorta-gonad-mesonephros; cranial ganglion; gut epithelium; hemolymphoid system; and sensory organ. Used to study severe congenital neutropenia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; myelodysplastic syndrome; and severe congenital neutropenia 2. Orthologous to human GFI1 (growth factor independent 1 transcriptional repressor). PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of inner ear hair cells, ataxia, circling, and deafness. Mutants also show a block in granulocyte and neutrophil maturation, and are hypersensitive to endotoxin stimulation. [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
