Version: 8.0.0
Date: Tue Jan 28 2025
Abhd12
Mus musculusMGI:1923442
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Abhd12

Species
Mus musculus
Symbol
Abhd12
Name
abhydrolase domain containing 12
Synonyms
  • 1500011G07Rik
  • 6330583M11Rik
Biotype
protein coding gene
Automated Description
Enables lysophospholipase activity; monoacylglycerol lipase activity; and palmitoyl-(protein) hydrolase activity. Involved in lipid catabolic process; protein depalmitoylation; and regulation of inflammatory response. Acts upstream of or within adult walking behavior; phosphatidylserine catabolic process; and response to auditory stimulus. Located in dendrite cytoplasm and endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase).
MGI Description
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12277
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
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    No data available

    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

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Abhd12 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
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            Genetic Interactions

            Abhd12 role
            Abhd12 genetic perturbation
            Interactor gene
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            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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