Primary Identifier | MGI:107365 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 22196 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables HLH domain binding activity. Involved in modulation of chemical synaptic transmission; negative regulation of transcription by RNA polymerase II; and nuclear export. Acts upstream of or within positive regulation of canonical NF-kappaB signal transduction. Located in nuclear body. Part of SUMO ligase complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; postsynaptic cytosol; and presynaptic cytosol. Is expressed in several structures, including early embryo; forebrain; forelimb bud; limb; and oocyte. Orthologous to human UBE2I (ubiquitin conjugating enzyme E2 I). PHENOTYPE: Embryos homozygous for a targeted null mutation die prior to E7.5. In culture, mutant blastocysts are viable up to 2 days but show subsequent apoptosis of the inner cell mass. Mutant cells exhibit major chromosome condensation and segregation defects as well as gross defects in nuclear organization. [provided by MGI curators] |