Primary Identifier | MGI:2449205 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 353187 |
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 several processes, including energy homeostasis; regulation of DNA-templated transcription; and regulation of skeletal muscle cell differentiation. Acts upstream of or within regulation of DNA-templated transcription. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study atrioventricular septal defect. Orthologous to human NR1D2 (nuclear receptor subfamily 1 group D member 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit no gross abnormalities. Mice homozygous for a different knock-out allele display an increased anxiety-related response. A subset of mice homozygous for a third knock-out allele show neonatal lethality, atrioventricular septal defects (AVSDs) and related cardiovascular malformations. [provided by MGI curators] |