Version: 8.0.0
Date: Tue Jan 28 2025
Mtmr14
Mus musculusMGI:1916075
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Mtmr14

Species
Mus musculus
Symbol
Mtmr14
Name
myotubularin related protein 14
Synonyms
  • 1110061O04Rik
  • AW553738
Biotype
protein coding gene
Automated Description
Predicted to enable phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity and phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be located in perinuclear region of cytoplasm and ruffle. Is expressed in cerebral cortex and retina. Human ortholog(s) of this gene implicated in centronuclear myopathy 1. Orthologous to human MTMR14 (myotubularin related protein 14).
MGI Description
PHENOTYPE: Homozygous null mice develop a muscle disorder due to impaired Ca2+ homeostasis. Males are sub-fertile with defects in spermatogenesis, sperm structure and motility, impaired acrosome reaction, decreased muscle force of vas deferens, and intracellular Ca2+ imbalance in the testes and epididymis. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13524
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
      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

          Mtmr14 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Mtmr14 role
            Mtmr14 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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