Version: 8.0.0
Date: Tue Jan 28 2025
Btk
Mus musculusMGI:88216
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Btk

Species
Mus musculus
Symbol
Btk
Name
Bruton agammaglobulinemia tyrosine kinase
Synonyms
  • AI528679
  • Bruton's tyrosine kinase
Biotype
protein coding gene
Automated Description
Enables protein tyrosine kinase activity. Involved in negative regulation of cytokine production and positive regulation of NLRP3 inflammasome complex assembly. Acts upstream of or within several processes, including B cell affinity maturation; cellular response to interleukin-7; and negative regulation of B cell proliferation. Located in cytoplasmic vesicle; membrane raft; and nucleus. Is expressed in liver left lobe; liver right lobe; spleen; and thymus primordium. Used to study X-linked agammaglobulinemia. Human ortholog(s) of this gene implicated in agammaglobulinemia (multiple); isolated growth hormone deficiency type III; and lymphoma (multiple). Orthologous to human BTK (Bruton tyrosine kinase).
MGI Description
PHENOTYPE: Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24418
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
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

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

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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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

          Btk molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

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