Primary Identifier | MGI:1195345 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 22666 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within heart development and kidney development. Predicted to be located in aggresome; cytosol; and nucleolus. Predicted to be active in nucleoplasm. Is expressed in central nervous system; cerebral cortex ventricular layer; cortical plate; and ureter. Orthologous to human ZBTB14 (zinc finger and BTB domain containing 14). PHENOTYPE: Mice homozygous for an ENU-induced mutation show exencephaly, cardiac defects including valve abnormalities, double outlet right ventricle, perimembranous ventricular septal defect, and atrioventricular septal defect, and renal anomalies such as duplex kidney, hydronephrosis, and kidney cysts. [provided by MGI curators] |