Primary Identifier | MGI:99603 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 67155 |
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 chromatin binding activity; nucleosome array spacer activity; and transcription coactivator activity. Acts upstream of or within aortic smooth muscle cell differentiation; hematopoietic stem cell homeostasis; and negative regulation of fibroblast proliferation. Located in nucleus. Part of nBAF complex and npBAF complex. Is expressed in several structures, including early conceptus; genitourinary system; heart; telencephalon; and vitelline artery. Human ortholog(s) of this gene implicated in Nicolaides-Baraitser syndrome and blepharophimosis-impaired intellectual development syndrome. Orthologous to human SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2). PHENOTYPE: Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds. [provided by MGI curators] |