FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\SynjRQ.UAS
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General Information
Symbol
Dmel\SynjRQ.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0327486
Feature type
allele
Associated gene
Dmel\Synj
Associated Insertion(s)
Carried in Construct
PBac{UAS-Synj.RQ}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Vanhauwaert et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Vanhauwaert et al., 2017)
Mutagen
in vitro construct
(Vanhauwaert et al., 2017)
Progenitor genotype
Carried in construct
PBac{UAS-Synj.RQ}
Cytology
Description

UASt regulatory sequences drive expression of Synj with the equivalent of a human Parkinson's disease-causing R258Q mutation (R228Q amino acid replacement).

(Vanhauwaert et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Synj
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:22,081,862..22,081,863 [+]
Nucleotide change:

GT22081862AG

Reported nucleotide change:

CGT>CAG

Amino acid change:

R228Q | Synj-PA; R228Q | Synj-PB; R228Q | Synj-PC

Reported amino acid change:

R228Q

Comment:

Analogous R258Q mutation in human SYNJ1 implicated in Parkinson disease 20, early-onset; mutation carried on in vitro construct.

(Vanhauwaert et al., 2017)
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  Parkinson's disease
      CEA with Synj1, Synj2
      (Vanhauwaert et al., 2017)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Parkinson's disease
      modeled by Synj1, Synj2
      (Vanhauwaert et al., 2017)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Vanhauwaert et al., 2017)
      SYNJ1:p.Arg219Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SYNJ1:p.Arg258Gln
      Associated human disease model(s)
      External database links
      ClinVar: SYNJ1_88844
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Synj1/Synj2 transheterozygotes expressing SynjRQ.Scer\UAS under the control of Scer\GAL4nSyb.PU present significant decreases in adult lifespan under starvation and significant decreases in the number of intact ommatidia upon 7 day exposure to constant light, but not to constant darkness, as compared to controls; Synj1/Synj2 transheterozygous third instar larval neuromuscular junctions expressing SynjRQ.Scer\UAS under the control of Scer\GAL4Toll-6-D42 present a significantly decreased induction of mature autophagosomes (detected as fluorescent Atg8 puncta) in the presynaptic region in response to direct electric nerve stimulation or starvation, as compared to controls.

      (Vanhauwaert et al., 2017)
      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
      Complementation and Rescue Data
      Rescues

      Scer\GAL4nSyb.PU/SynjRQ.UAS rescues Synj1

      (Vanhauwaert et al., 2017)
      Partially rescues

      SynjRQ.UAS/Scer\GAL4Toll-6-D42 partially rescues Synj2/Synj1

      (Vanhauwaert et al., 2017)

      Scer\GAL4nSyb.PU/SynjRQ.UAS partially rescues Synj2/Synj1

      (Vanhauwaert et al., 2017)
      Comments

      The expression of SynjRQ.Scer\UAS under the control of Scer\GAL4nSyb.PU rescues the larval lethality of Synj1/Synj2 transheterozygotes; this expression also rescues the decreased synaptic transmission in electroretinograms measured in Synj1 homozygous eyes within mosaic adults, as compared to controls.

      The expression of SynjRQ.Scer\UAS under the control of Scer\GAL4Toll-6-D42 partially rescues the third instar larval neuromuscular junction defects of Synj1/Synj2 transheterozygotes, as it suppresses the presynaptic increase in the number of satellite boutons, decrease in endocytosis levels and decrease in synaptic vesicle density under starvation conditions, suppresses the failure to sustain neurotransmission under high stimulation conditions, but does not suppress the failure to starvation-induce presynaptic mature autophagosomes (detected as fluorescent Atg8 puncta) and autolysosomes (detected as fluorescent Lamp1 puncta) nor the increase in presynaptic cisternae density under starvation conditions.

      (Vanhauwaert et al., 2017)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      SynjRQ.Scer\UAS
      SynjRQ.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)