Version: 8.0.0
Date: Tue Jan 28 2025
Pdgfrb
Mus musculusMGI:97531
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Pdgfrb

Species
Mus musculus
Symbol
Pdgfrb
Name
platelet derived growth factor receptor, beta polypeptide
Synonyms
  • AI528809
  • CD140b
Biotype
protein coding gene
Automated Description
Enables platelet-derived growth factor receptor activity and signaling receptor binding activity. Involved in several processes, including positive regulation of intracellular signal transduction; protein phosphorylation; and vasculature development. Acts upstream of or within several processes, including cellular response to hydrogen peroxide; response to ceramide; and ruffle assembly. Located in cell surface; cytoplasm; and ruffle. Is expressed in several structures, including alimentary system; extraembryonic component; genitourinary system; nervous system; and sensory organ. Used to study several diseases, including autism spectrum disorder; basal ganglia calcification; infantile myofibromatosis; myeloproliferative neoplasm; and severe nonproliferative diabetic retinopathy. Human ortholog(s) of this gene implicated in basal ganglia calcification; glioblastoma; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. Orthologous to human PDGFRB (platelet derived growth factor receptor beta).
MGI Description
PHENOTYPE: Homozygous null mutants die perinatally with internal bleeding, thrombocytopenia, anemia and kidney defects. A frameshift mutation results in neonatal lethals with edema and hemorrhaging; several point mutations show cardiovascular abnormalities. [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
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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
        Associated Phenotypes
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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

          Pdgfrb molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

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