Version: 8.0.0
Date: Tue Jan 28 2025
Spg21
Mus musculusMGI:106403
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Spg21

Species
Mus musculus
Symbol
Spg21
Name
SPG21, maspardin
Synonyms
  • ACP33
  • BM-019
Biotype
protein coding gene
Automated Description
Predicted to enable CD4 receptor binding activity. Acts upstream of or within several processes, including epidermal growth factor receptor signaling pathway; neuron development; and response to epidermal growth factor. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol and trans-Golgi network transport vesicle. Is expressed in extraembryonic component; head mesenchyme; tongue; and vertebral axis musculature. Used to study Mast syndrome. Human ortholog(s) of this gene implicated in Mast syndrome and hereditary spastic paraplegia. Orthologous to human SPG21 (SPG21 abhydrolase domain containing, maspardin).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, dragging of the hind limbs, attenuated growth and maturation of cortical neurons and abnormal cortical neuron axonal branching. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15913
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

          Spg21 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Spg21 role
            Spg21 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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