Version: 8.0.0
Date: Tue Jan 28 2025
Pkd1l1
Mus musculusMGI:2156538
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Pkd1l1

Species
Mus musculus
Symbol
Pkd1l1
Name
polycystic kidney disease 1 like 1
Synonyms
  • AA444596
  • expressed sequence AA444596
Biotype
protein coding gene
Automated Description
Predicted to enable calcium channel activity. Involved in detection of nodal flow and left/right axis specification. Acts upstream of or within determination of left/right symmetry and heart development. Located in cilium. Is expressed in cochlea; node; and notochord. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human PKD1L1 (polycystin 1 like 1, transient receptor potential channel interacting).
MGI Description
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10877
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
    Source
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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
        Has Disease Annotations
        Has Phenotype Annotations
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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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            8.80M8.82M8.84M8.86M8.88M8.90M8.92M

            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

            Pkd1l1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Pkd1l1 role
              Pkd1l1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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