| Primary Identifier | MGI:107595 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 20688 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within regulation of heart contraction. Predicted to be located in cytosol and nucleoplasm. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; nervous system; and sensory organ. Used to study schizophrenia. Human ortholog(s) of this gene implicated in congenital heart disease and dilated cardiomyopathy. Orthologous to human SP4 (Sp4 transcription factor). PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. [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
