| Primary Identifier | MGI:95664 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 14463 |
| 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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and transcription coactivator binding activity. Involved in several processes, including heart development; negative regulation of apoptotic process; and regulation of gene expression. Acts upstream of or within several processes, including embryonic morphogenesis; heart development; and male gonad development. Located in chromatin and nucleus. Is expressed in several structures, including early conceptus; embryo mesenchyme; gut; heart; and reproductive system. Used to study atrial heart septal defect 2 and congenital diaphragmatic hernia. Human ortholog(s) of this gene implicated in congenital heart disease (multiple). Orthologous to human GATA4 (GATA binding protein 4). PHENOTYPE: Nullizygous mice show defects in ventral morphogenesis, lack a primitive heart tube and foregut, develop partially outside the yolk sac and die by midgestation. Heterozygotes show neonatal death, defects in heart, lungs or diaphragm, delayed female puberty and impaired ovarian response to gonadotropins. Homozygosity for phosphorylation-blocking mutation p.S105A leads to reduced testosterone levels and seminal vesicle weight in males. [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
