Primary Identifier | MGI:1328787 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 17129 |
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 SMAD protein signal transduction; negative regulation of transcription by RNA polymerase II; and ureteric bud development. Acts upstream of or within several processes, including osteoblast fate commitment; skeletal system development; and transforming growth factor beta receptor superfamily signaling pathway. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; egg cylinder; embryo mesenchyme; and genitourinary system. Orthologous to human SMAD5 (SMAD family member 5). PHENOTYPE: Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5. [provided by MGI curators] |