| Primary Identifier | MGI:1861942 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 57080 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity. Acts upstream of or within transition between slow and fast fiber. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; eye; and genitourinary system. Used to study Williams-Beuren syndrome and hepatocellular carcinoma. Orthologous to human GTF2IRD1 (GTF2I repeat domain containing 1). PHENOTYPE: Homozygotes for one null allele is embryonic lethal with abnormal yolk sac vasulogenesis, abnormal angiogenesis, and neural tube defect. Other null allele homozygous mice are viable and have behavioral defects and exhibit a mild craniofacial defect withvariable penetrance. [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
