| Primary Identifier | MGI:1306784 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 17684 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including RNA polymerase II-specific DNA-binding transcription factor binding activity; SMAD binding activity; and transcription coactivator activity. Involved in several processes, including adrenal cortex formation; heart morphogenesis; and left/right pattern formation. Acts upstream of or within several processes, including circulatory system development; embryo development; and hemopoiesis. Located in chromatin and nucleus. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart; and sensory organ. Used to study tetralogy of Fallot. Human ortholog(s) of this gene implicated in atrial heart septal defect 8 and ventricular septal defect. Orthologous to human CITED2 (Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2). PHENOTYPE: Mutations in this locus cause cardiac malformations, lethality between E13.5-18.5, neural tube defects, exencephaly, hydrops fetalis, small size, abnormal embryo turning, situs inversus, small spleen, dorsal root and cranial ganglia abnormalities, impaired kidney development and iris coloboma. [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
