Version: 8.0.0
Date: Tue Jan 28 2025
Smarcb1
Mus musculusMGI:1328366
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Smarcb1

Species
Mus musculus
Symbol
Smarcb1
Name
SWI/SNF related BAF chromatin remodeling complex subunit B1
Synonyms
  • AU020204
  • Baf47
Biotype
protein coding gene
Automated Description
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).
MGI Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10019
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Smarcb1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            Smarcb1 role
            Smarcb1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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