Primary Identifier | MGI:1203524 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 20588 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Acts upstream of or within several processes, including insulin receptor signaling pathway; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and positive regulation of transcription by RNA polymerase II. Located in XY body and male germ cell nucleus. Part of SWI/SNF complex; nBAF complex; and npBAF complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in hydrocephalus. Orthologous to human SMARCC1 (SWI/SNF related BAF chromatin remodeling complex subunit C1). PHENOTYPE: Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation. [provided by MGI curators] |