FB2024_03 , released June 25, 2024
Allele: Hsap\PNPLA6UAS.cSa
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General Information
Symbol
Hsap\PNPLA6UAS.cSa
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Sujkowski
FlyBase ID
FBal0323609
Feature type
allele
Associated gene
Hsap\PNPLA6
Associated Insertion(s)
Carried in Construct
P{UAS-PNPLA6.S}
Key Links
Transgenic product class
cDNA
(Sujkowski et al., 2015)
wild_type
(Sujkowski et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
cDNA
(Sujkowski et al., 2015)
wild_type
(Sujkowski et al., 2015)
Mutagen
in vitro construct
(Sujkowski et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-PNPLA6.S}
Cytology
Description

UASt regulatory sequences drive expression of a Hsap\PNPLA6 cDNA.

(Sujkowski et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\PNPLA6
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  neurodegenerative disease
      modeled by sws5
      (Sujkowski et al., 2015)
      modeled by swsHMJ23229
      (Ryabova et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\PNPLA6Scer\UAS.cSa
      Hsap\PNPLA6UAS.cSa
      Name Synonyms
      Saccharomyces cerevisiae UAS construct a of Sujkowski
      Secondary FlyBase IDs
        References (2)