Version: 8.0.0
Date: Tue Jan 28 2025
Abcc9
Mus musculusMGI:1352630
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Abcc9

Species
Mus musculus
Symbol
Abcc9
Name
ATP-binding cassette, sub-family C member 9
Synonyms
  • AI414027
  • AI449286
Biotype
protein coding gene
Automated Description
Enables potassium channel activity. Acts upstream of or within with a positive effect on cardiac muscle cell contraction. Acts upstream of or within several processes, including heart development; oxygen metabolic process; and regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Located in sarcomere. Part of protein-containing complex. Is active in mitochondrion and sarcolemma. Is expressed in several structures, including alimentary system; heart; musculoskeletal system; nervous system; and nose. Used to study coronary artery disease and hypertrichotic osteochondrodysplasia Cantu type. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; hypertrichotic osteochondrodysplasia Cantu type; and intellectual disability and myopathy syndrome. Orthologous to human ABCC9 (ATP binding cassette subfamily C member 9).
MGI Description
PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24223
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
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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
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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

          Abcc9 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Abcc9 role
            Abcc9 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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