Primary Identifier | MGI:98369 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 20680 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Acts upstream of or within positive regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; reproductive system; and urinary system. Used to study congenital diaphragmatic hernia. Orthologous to human SOX7 (SRY-box transcription factor 7). PHENOTYPE: Embryos homozygous for a null allele exhibit growth retardation, abnormal vitelline vascular remodeling, pericardial edema, hypocellular atrioventricular endocardial cushions, and death during organogenesis. Depending on the genetic background, a portion of heterozygotes can develop congenital diaphragmatic hernias. [provided by MGI curators] |