Primary Identifier | MGI:2442995 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 225182 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including identical protein binding activity; single-stranded DNA endodeoxyribonuclease activity; and transcription corepressor activity. Acts upstream of or within G1/S transition of mitotic cell cycle and blastocyst hatching. Predicted to be located in nucleoplasm. Predicted to be part of BRCA1-C complex and transcription repressor complex. Predicted to be active in site of double-strand break. Human ortholog(s) of this gene implicated in Seckel syndrome 2. Orthologous to human RBBP8 (RB binding protein 8, endonuclease). PHENOTYPE: Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomasof both B and T cells. [provided by MGI curators] |