Primary Identifier | MGI:1202722 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 14886 |
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 activator activity, RNA polymerase II-specific and RNA polymerase II-specific DNA-binding transcription factor binding activity. Predicted to be involved in negative regulation of cytosolic calcium ion concentration and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of angiogenesis. Located in nucleus. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; respiratory system; and tooth. Used to study Williams-Beuren syndrome. Orthologous to human GTF2I (general transcription factor IIi). PHENOTYPE: Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported. [provided by MGI curators] |