FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\SynjRQ
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General Information
Symbol
Dmel\SynjRQ
Species
D. melanogaster
Name
FlyBase ID
FBal0327488
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Associated Insertion(s)
Cytology
Description

Synj with a R228Q mutation (corresponding to human R258Q) is knocked in to the endogenous Synj locus by phiC31-mediated integration to replace the RMCE cassette present in the Mi{MIC}SynjMI11871 insertion, followed by homologous recombination steps using the RS(I-SceI) and RS(I-CreI) sites that were each present in the inserted recombination cassette.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Reported amino acid change:

R228Q

Comment:

A CGT to CAG (R228Q) mutation knocked in to the endogenous Synj locus. The analagous mutation in human is implicated in Parkinson's Disease. The sequence of the knocked in Gln codon was determined from primer sequences.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
SYNJ1:p.Arg219Gln
Variants Synonym(s)
SYNJ1:p.Arg258Gln
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

SynjRQ homozygotes are viable but adults exhibit a significant decrease in lifespan under starvation conditions; mutant adults also exhibit significant decreases in the numbers of PPL1 and PPM3, but not PPM1 and PPM2, neurons at day 30 post eclosion, but do not show significant changes in retinal synaptic transmission at days 3-5 post eclosion, as compared to controls; SynjRQ homozygous third instar larval neuromuscular junctions exhibit concomitant decrease in synaptic vesicles density and increase in cisternae density at boutons under starvation conditions, but do not exhibit significant defects in the number of satellite boutons, in the levels of presynaptic endocytosis or in sustained neurotransmission under high stimulation conditions (assessed by the amplitude of spontaneous excitatory junctional currents), as compared to controls.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
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 (2)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (2)