| Primary Identifier | MGI:1328366 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 20587 |
| 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 Tat protein binding activity; p53 binding activity; and transcription coactivator activity. Acts upstream of or within blastocyst hatching; hepatocyte differentiation; and negative regulation of cell population proliferation. Located in XY body and germ cell nucleus. Part of SWI/SNF complex; nBAF complex; and npBAF complex. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb primordium; and sensory organ. Used to study atypical teratoid rhabdoid tumor. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 3; meningioma; rhabdoid cancer; rhabdoid tumor predisposition syndrome 1; and schwannomatosis (multiple). Orthologous to human SMARCB1 (SWI/SNF related BAF chromatin remodeling complex subunit B1). PHENOTYPE: Homozygous inactivation of this gene leads to peri-implantation lethality, likely due to an inability of the blastocysts to hatch and implant in the uterus. A subset of heterozygous null mice develop a variety of tumors in the soft tissues of the head and neck. Homozygosity for a C-terminus extending mutation affects brain development, often leading to hydrocephalus, and leads to slow weight gain. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
