FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\sws5
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General Information
Symbol
Dmel\sws5
Species
D. melanogaster
Name
FlyBase ID
FBal0065672
Feature type
allele
Associated gene
Dmel\sws
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
    Nature of the Allele
    Allele class
    Mutagen
    Progenitor genotype
    Cytology
    Description

    Amino acid replacement: G648R. Nucleotide substitution: G2431A.

    (Kretzschmar et al., 1997)
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    X:7,962,969..7,962,969 [-]
    Nucleotide change:

    G7962969A

    Reported nucleotide change:

    G2431A

    Amino acid change:

    G648R | sws-PA; G648R | sws-PC

    Reported amino acid change:

    G648R

    (Kretzschmar et al., 1997)
    Variant Molecular Consequences
    Associated Sequence Data
    DDBJ / EMBL / GenBank
    DNA sequence
    Protein sequence
     
    UniProtKB/Swiss-Prot
      UniProtKB/TrEMBL
        Expression Data
        Reporter Expression
        Additional Information
        Statement
        Reference
         
        Marker for
        Reflects expression of
        Reporter construct used in assay
        Human Disease Associations
        Disease Ontology (DO) Annotations
        Models Based on Experimental Evidence ( 1 )
        Disease
        Evidence
        References
        model of  neurodegenerative disease
        CEA
        (Sujkowski et al., 2015)
        Modifiers Based on Experimental Evidence ( 1 )
        Disease
        Interaction
        References
        model of  neurodegenerative disease
        is ameliorated by Hsap\PNPLA6UAS.cSa
        (Sujkowski et al., 2015)
        Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
         
        Disease-implicated variant(s)
         
        Phenotypic Data
        Phenotypic Class
        Phenotype Manifest In
        Detailed Description
        Statement
        Reference

        sws5 mutant adults display severe age-progressive decline in locomotion in the negative geotaxis climbing assay as well as strongly reduced endurance (measured as time-to-fatigue in the climbing assay). Severe vacuolization and loss of brain tissue is also observed in sws5 adults.

        (Sujkowski et al., 2015)

        Homozygotes adults show a significant reduction in lifespan compared to wild-type flies.

        (Kretzschmar et al., 1997)
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Phenotype Manifest In
        Additional Comments
        Genetic Interactions
        Statement
        Reference
        Xenogenetic Interactions
        Statement
        Reference

        The age-progressive loss of climbing ability, reduced endurance as well as decreased adult lifespan characteristic for sws5 mutant adults are significantly improved by expression of Hsap\PNPLA6Scer\UAS.cSa under the control of Scer\GAL4elav.Switch.PO, using RU486 food supplementation to activate expression only after eclosion. The vacuolization and loss of brain tissue observed in sws5 adults is also significantly rescued by Hsap\PNPLA6Scer\UAS.cSa expression: the number of vacuoles remains the same but their area is reduced. The improvement of locomotor behavior, endurance as well as loss of brain tissue is seen even upon delayed adult-induced expression of Hsap\PNPLA6Scer\UAS.cSa - after a considerable degeneration had already occurred.

        (Sujkowski et al., 2015)
        Complementation and Rescue Data
        Comments
        Images (0)
        Mutant
        Wild-type
        Stocks (0)
        Notes on Origin
        Discoverer
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (1)
        Reported As
        Symbol Synonym
        sws5
        (Sujkowski et al., 2015)
        Name Synonyms
        Secondary FlyBase IDs
          References (2)