Version: 8.0.0
Date: Tue Jan 28 2025
Cacna1a
Mus musculusMGI:109482
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Cacna1a

Species
Mus musculus
Symbol
Cacna1a
Name
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms
  • alpha1A
  • BccA1
Biotype
protein coding gene
Automated Description
Enables high voltage-gated calcium channel activity and voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Acts upstream of or within several processes, including chemical synaptic transmission; modulation of chemical synaptic transmission; and nervous system development. Located in dendrite and neuronal cell body. Part of voltage-gated calcium channel complex. Is active in glutamatergic synapse; postsynaptic membrane; and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; dorsal root ganglion; heart; and trigeminal nerve. Used to study Lambert-Eaton myasthenic syndrome; brain disease (multiple); and episodic ataxia type 2. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 42; hereditary ataxia (multiple); and migraine (multiple). Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A).
MGI Description
PHENOTYPE: Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45628
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
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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

          Cacna1a molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Cacna1a role
            Cacna1a genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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