Primary Identifier | MGI:1338010 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 15248 |
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 repressor activity, RNA polymerase II-specific; histone deacetylase binding activity; and sequence-specific double-stranded DNA binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage; negative regulation of transcription by RNA polymerase II; and positive regulation of DNA damage response, signal transduction by p53 class mediator. Located in chromatin. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and trophectoderm. Used to study Miller-Dieker lissencephaly syndrome. Orthologous to human HIC1 (HIC ZBTB transcriptional repressor 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit varying abnormalities, such as acrania, exencephaly, cleft palate, limb defects, and omphalocele, and die perinatally. Heterozygotes develop tumors, including lymphomas, sarcomas, and epithelial cancers. [provided by MGI curators] |