Primary Identifier | MGI:1197515 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 16371 |
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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in proximal/distal pattern formation involved in metanephric nephron development and specification of loop of Henle identity. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; autopod; central nervous system; metanephros; and respiratory system. Human ortholog(s) of this gene implicated in congenital heart disease. Orthologous to human IRX1 (iroquois homeobox 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with delayed lung maturation, cyanosis, respiratory distress, atelectasis and decreased surfactant secretion, and show defects in dental epithelial cell differentiation and delayed growth of the lower incisors. [provided by MGI curators] |