| Primary Identifier | MGI:1202715 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 21412 |
| 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 factor activity, RNA polymerase II-specific; DNA-binding transcription factor binding activity; and E-box binding activity. Involved in several processes, including metanephros development; regulation of transcription by RNA polymerase II; and skeletal muscle organ development. Acts upstream of or within several processes, including lung development; nephron development; and sex determination. Part of transcription regulator complex. Is expressed in several structures, including embryo mesenchyme; genitourinary system; gut; heart and pericardium; and respiratory system. Human ortholog(s) of this gene implicated in coronary artery disease and ventricular septal defect. Orthologous to human TCF21 (transcription factor 21). PHENOTYPE: Homozygotes for targeted null mutations exhibit hypoplastic lungs and kidneys with abnormal vasculature of these organs and the hemopericardium, and die at birth due to respiratory failure. Homozygotes for some mutations are also asplenic. Some alleles cause sex reversal in XY mice. [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
