Primary Identifier | MGI:1338038 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 11569 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables transcription coregulator activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within regulation of DNA-templated transcription. Located in nucleus. Part of ESC/E(Z) complex. Is expressed in several structures, including autopod; brain ventricular layer; early conceptus; genitourinary system; and gut. Used to study Hirschsprung's disease and Waardenburg syndrome. Orthologous to human AEBP2 (AE binding protein 2). PHENOTYPE: Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex. [provided by MGI curators] |