Primary Identifier | MGI:96522 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 19664 |
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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in several processes, including circulatory system development; positive regulation of signal transduction; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; epithelial cell differentiation; and regulation of gene expression. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including early conceptus; genitourinary system; neural ectoderm; paraxial mesenchyme; and retina. Used to study aortic valve disease. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and dilated cardiomyopathy. Orthologous to human RBPJ (recombination signal binding protein for immunoglobulin kappa J region). PHENOTYPE: Mice homozygous for a null allele exhibit complete prenatal lethality. [provided by MGI curators] |