Primary Identifier | MGI:1888520 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 57261 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including RNA polymerase II C-terminal domain binding activity; chromatin binding activity; and protein serine/threonine kinase activity. Involved in positive regulation of T-helper 17 cell lineage commitment. Acts upstream of or within chromosome segregation and inner cell mass cell proliferation. Located in condensed nuclear chromosome. Part of chromatin and cyclin/CDK positive transcription elongation factor complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; liver; and sensory organ. Used to study nephrocalcinosis. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome; colon cancer; and idiopathic pulmonary fibrosis. Orthologous to human BRD4 (bromodomain containing 4). PHENOTYPE: Homozygotes for a gene-trap null mutation die soon after implantation. Heterozygotes exhibit impaired pre- and postnatal growth, head malformations, lack of subcutaneous fat, cataracts, and abnormal liver cells. [provided by MGI curators] |