| Primary Identifier | MGI:102541 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 21388 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in heart development; positive regulation of gap junction assembly; and positive regulation of transcription by RNA polymerase II. Acts upstream of with a positive effect on bundle of His cell to Purkinje myocyte communication by electrical coupling; cell-cell signaling; and regulation of atrial cardiac muscle cell membrane depolarization. Acts upstream of or within several processes, including embryonic forelimb morphogenesis; heart development; and positive regulation of cell population proliferation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including embryo mesenchyme; eye; genitourinary system; heart; and vena cava. Used to study Holt-Oram syndrome. Human ortholog(s) of this gene implicated in Holt-Oram syndrome. Orthologous to human TBX5 (T-box transcription factor 5). PHENOTYPE: Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state. [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
