FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Syx1AA243V.V247A
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General Information
Symbol
Dmel\Syx1AA243V.V247A
Species
D. melanogaster
Name
FlyBase ID
FBal0134141
Feature type
allele
Associated gene
Dmel\Syx1A
Associated Insertion(s)
Carried in Construct
P{Syx1A.A243V.V247A}
Key Links
Transgenic product class
missense_variant
(Fergestad et al., 2001)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Fergestad et al., 2001)
Mutagen
in vitro construct
(Fergestad et al., 2001)
Progenitor genotype
Syx1A+t13.5
(Fergestad et al., 2001)
Carried in construct
P{Syx1A.A243V.V247A}
Cytology
Description

Construct: Amino acid replacement: A243V. Amino acid replacement: V247A.

(Fergestad et al., 2001)
Allele components
Component
Use(s)
Regulatory region(s)
Syx1A
Encoded product / tool
Syx1A
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 ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Syx1AA243V.V247A, Syx1AΔ229 mutant embryos have normally structured tissues in general. Epidermal, gut and nerve cord defects of Syx1AΔ229 are ameliorated by Syx1AA243V.V247A. Evoked EJC amplitude is reduced to 10% of the levels of the Syx1A+t13.5,Syx1AΔ229 controls. Ca2+ cooperativity of transmission is unaffected. Neurotransmitter release is strikingly asynchronous, demonstrates low fidelity to identical stimuli and exhibits a high failure rate - excitation-secretion coupling is severely impaired. mEJC amplitude is slightly increased, but the kinetics of transmitter release is unaffected. mEJC frequency is significantly decreased. Mutant synapses have significantly fewer SNARE complexes, as measured by reduction in hyperosmotic response at the embryonic synapse. Hyperosmotic response also shows increased latency.

      (Fergestad et al., 2001)
      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
      Partially rescues

      Syx1AA243V.V247A partially rescues Syx1AΔ229

      (Fergestad et al., 2001)
      Comments

      Rescues cuticular defect of Syx1AΔ229 - all cuticular features of embryos are indistinguishable from wild type. Rescued embryos show spontaneous movement and response to touch, though less so than wild type.

      (Fergestad et al., 2001)
      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
      Syx1AA243V.V247A
      syx4
      (Fergestad et al., 2001)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)