Primary Identifier | MGI:1346832 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 26380 |
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 activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II complex binding activity. Involved in several processes, including photoreceptor cell maintenance; positive regulation of stem cell population maintenance; and regulation of macromolecule biosynthetic process. Acts upstream of or within in utero embryonic development and somatic stem cell population maintenance. Located in condensed chromosome; cytoplasm; and nucleus. Part of integrator complex. Is expressed in several structures, including central nervous system; early conceptus; endocrine gland; gonad; and sensory organ. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 35. Orthologous to human ESRRB (estrogen related receptor beta). PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos around E9.5 or E10.5 as a result of failure of the chorion to develop and subsequent placental defects. [provided by MGI curators] |