Version: 8.0.0
Date: Tue Jan 28 2025
Rs1
Mus musculusMGI:1336189
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Rs1

Species
Mus musculus
Symbol
Rs1
Name
retinoschisis (X-linked, juvenile) 1 (human)
Synonyms
  • retinoschisis 1 homolog (human)
  • Rs1h
Biotype
protein coding gene
Automated Description
Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Acts upstream of or within retina layer formation. Located in several cellular components, including external side of plasma membrane; neuron to neuron synapse; and photoreceptor inner segment. Part of protein-containing complex. Is active in cell surface. Is expressed in eye. Used to study X-linked juvenile retinoschisis 1. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1).
MGI Description
PHENOTYPE: Hemizygous males for a targeted null X-linked mutation exhibit disrupted organization of retinal cell layers, small cyst-like structures on the inner retina, and altered electroretinographs. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24543
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
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Download all Alleles/Variants for all genes of the species

      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
        Source
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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
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Rs1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Rs1 role
            Rs1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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