Primary Identifier | MGI:1915344 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 68094 |
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 negative regulation of transcription by RNA polymerase II. Part of SWI/SNF complex; nBAF complex; and npBAF complex. Is expressed in central nervous system; genitourinary system; and inner ear. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 8. Orthologous to human SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2). PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators] |