Version: 8.0.0
Date: Tue Jan 28 2025
Kit
Mus musculusMGI:96677
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Kit

Species
Mus musculus
Symbol
Kit
Name
KIT proto-oncogene receptor tyrosine kinase
Synonyms
  • belly-spot
  • Bs
Biotype
protein coding gene
Automated Description
Enables SH2 domain binding activity; protease binding activity; and stem cell factor receptor activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; erythropoietin-mediated signaling pathway; and hemopoiesis. Acts upstream of or within several processes, including hematopoietic progenitor cell differentiation; positive regulation of macromolecule metabolic process; and positive regulation of mast cell proliferation. Located in cell-cell junction and external side of plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; embryo mesenchyme; and genitourinary system. Used to study gastrointestinal stromal tumor; macrocytic anemia; mastocytosis; and piebaldism. Human ortholog(s) of this gene implicated in several diseases, including gastrointestinal stromal tumor; germ cell cancer (multiple); mastocytosis; piebaldism; and renal cell carcinoma. Orthologous to human KIT (KIT proto-oncogene, receptor tyrosine kinase).
MGI Description
PHENOTYPE: Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hematopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24416
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
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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
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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

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

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