Version: 8.0.0
Date: Tue Jan 28 2025
Gnpat
Mus musculusMGI:1343460
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Gnpat

Species
Mus musculus
Symbol
Gnpat
Name
glyceronephosphate O-acyltransferase
Synonyms
  • AU019525
  • D1Ertd819e
Biotype
protein coding gene
Automated Description
Enables glycerone-phosphate O-acyltransferase activity. Acts upstream of or within several processes, including cell junction assembly; cerebellum morphogenesis; and ether lipid biosynthetic process. Located in peroxisome. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study disease of mental health and rhizomelic chondrodysplasia punctata type 2. Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata type 2. Orthologous to human GNPAT (glyceronephosphate O-acyltransferase).
MGI Description
PHENOTYPE: Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12563
No data available
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
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
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      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
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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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            125.590M125.595M125.600M125.605M125.610M125.615M

            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

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

              Gnpat role
              Gnpat genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
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