FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Syt1I426K.UAS.Tag:MYC
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General Information
Symbol
Dmel\Syt1I426K.UAS.Tag:MYC
Species
D. melanogaster
Name
FlyBase ID
FBal0348096
Feature type
allele
Associated gene
Dmel\Syt1
Associated Insertion(s)
Carried in Construct
P{UAS-Syt1.I426K}
Key Links
Transgenic product class
missense_variant
(Montes-Chinea et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Montes-Chinea et al., 2018)
Mutagen
in vitro construct
(Montes-Chinea et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-Syt1.I426K}
Cytology
Description

UAS regulates expression of mutant Syt1 bearing a I426K mutation, equivalent to the missense I371 mutation in human 'SYT2' that causes distal hereditary motor neuropathy and presynaptic neuromuscular junction (NMJ) transmission dysfunction. The construct has an N-terminal Tag:MYC tag.

(Montes-Chinea et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Syt1
Tagged with
Tag:MYC
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 ( 1 )
      Disease
      Evidence
      References
      model of  congenital myasthenic syndrome 7
      CEC
      (Montes-Chinea et al., 2018)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      FlyBase curator comment: "congenital myasthenic syndrome 7" is associated with human ortholog SYT2.

      (Montes-Chinea et al., 2018)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Montes-Chinea et al., 2018)
      SYT2:p.Ile371Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Syt1AD4/Syt1N13 transheterozygous larvae exhibit synaptic transmission defects across neuromuscular junctions, including severely defective synchronous neurotransmitter release, a large increase in failure rate following stimulation, and enhancement of the slower asynchronous phase of release. These defects are enhanced upon the expression of Syt1I426K.UAS.Tag:MYC under the control of Scer\GAL4elav-C155.

      Expressing Syt1I426K.UAS.Tag:MYC under the control of Scer\GAL4elav-C155 induces synaptic transmission defects across the larval neuromuscular junction, including decreased excitatory evoked junctional current (eEJC), and eEJC facilitation during 10 Hz stimulation instead of the synaptic depression observed in controls.

      (Montes-Chinea et al., 2018)
      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
      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
      Syt1I426K.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)