Version: 8.0.0
Date: Tue Jan 28 2025
Ttn
Mus musculusMGI:98864
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ttn

Species
Mus musculus
Symbol
Ttn
Name
titin
Synonyms
  • 1100001C23Rik
  • 2310036G12Rik
Biotype
protein coding gene
Automated Description
Enables ankyrin binding activity. Involved in heart development; regulation of relaxation of cardiac muscle; and somitogenesis. Acts upstream of or within several processes, including forward locomotion; heart development; and sarcomere organization. Located in M band and Z disc. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart; lung; and musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2J; dilated cardiomyopathy 1G; and tibial muscular dystrophy. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human TTN (titin).
MGI Description
PHENOTYPE: Homozygous mutant mice show embryogenesis defects in frontonasal mass, first branchial arch and somites, and vascular, cardiac and skeletal muscle defects causing growth retardation, muscle weakness, abnormal posture, and premature death ranging from embryonic day 11.5 to 8 weeks of age. A homozygous point mutation leads to reduced systolic function and mild ventricular dilation in the heart and increased cardiomyocyte size. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR14340
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
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      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
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          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

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

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