Version: 8.0.0
Date: Tue Jan 28 2025
Lmna
Mus musculusMGI:96794
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Lmna

Species
Mus musculus
Symbol
Lmna
Name
lamin A
Synonyms
  • Dhe
  • disheveled hair and ear
Biotype
protein coding gene
Automated Description
A structural constituent of nuclear lamina. Involved in several processes, including establishment or maintenance of microtubule cytoskeleton polarity; negative regulation of cardiac muscle hypertrophy in response to stress; and protein localization to nucleus. Acts upstream of or within several processes, including negative regulation of apoptotic signaling pathway; protein import into nucleus; and ventricular cardiac muscle cell development. Located in lamin filament and nuclear membrane. Is active in nuclear lamina. Is expressed in several structures, including embryo mesenchyme; epithelium; heart; hemolymphoid system; and musculature. Used to study achalasia; dilated cardiomyopathy 1A; neuromuscular disease (multiple); otitis media; and progeria. Human ortholog(s) of this gene implicated in several diseases, including Werner syndrome; intrinsic cardiomyopathy (multiple); lipodystrophy (multiple); neuromuscular disease (multiple); and type 2 diabetes mellitus (multiple). Orthologous to human LMNA (lamin A/C).
MGI Description
PHENOTYPE: Homozygotes for targeted mutations exhibit retarded postnatal growth, muscular dystrophy, reduced fat stores, micrognathy, abnormal dentition, impaired gonadal development, malformed scapulae, hyperkeratosis, and die by 8 weeks of age. Heterozygosity for an atypical progeria syndrome (APS) associated mutation leads to changes in fat distribution, and diet-induced weight gain, insulin resistance, glucose intolerance and hypercholesteremia. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45721
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
    Has Disease 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
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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

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

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