FB2024_03 , released June 25, 2024
Allele: Dmel\DabEC1
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General Information
Symbol
Dmel\DabEC1
Species
D. melanogaster
Name
FlyBase ID
FBal0261118
Feature type
allele
Associated gene
Dmel\Dab
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Kawasaki et al., 2011)
Progenitor genotype
Cytology
Description

An early stop codon is introduced within the conserved N-terminal PTB/DH domain.

(Kawasaki et al., 2011)

Amino acid replacement: Y134term.

(Kawasaki et al., 2011)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:16,715,794..16,715,794 [+]
Nucleotide change:

T16715794A

Amino acid change:

Y134term | Dab-PA; Y110term | Dab-PC; Y110term | Dab-PD; Y134term | Dab-PE; Y134term | Dab-PF; Y110term | Dab-PG; Y134term | Dab-PH; Y134term | Dab-PI

Reported amino acid change:

Y134term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Kawasaki et al., 2011)
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

      DabEC1 mutants exhibit a temperature-sensitive impairment of motor behavior and a synaptic phenotype.

      At the restrictive temperature of 33[o]C, DabEC1 mutants produce a wild-type excitatory post-synaptic current (EPSC), indicating that basic properties of synaptic function are preserved. In contrast, subsequent stimulation produces a clear activity-dependent reduction in EPSC amplitude with respect to wild-type. A milder form of this phenotype is seen at 20[o]C. Prolonged stimulation of DabEC1 synapses results in strong depression and a sustained reduced steady-state level of neurotransmitter release.

      DabEC1/Df(3L)Exel6130 mutants display a disruption synaptic vesicle endocytosis. Synaptic vesicle size is increased in these flies with respect to wild-type. Boutons exhibit large cisternae-like membrane structure rarely seen in wild-type. The number of docked synaptic vesicles at DabEC1/Df(3L)Exel6130 synapses is the same as in wild-type, indicating that synaptic vesicles are present at release sites but unable to fuse efficiently with the plasma membrane.

      DabEC1 mutants produce an activity-dependent reduction in excitatory post-synaptic current (EPSC) amplitude with rapid onset during train stimulation. Vesicle size is increased in these mutants.

      (Kawasaki et al., 2011)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhancer of
      Statement
      Reference

      DabEC1 is an enhancer of paralytic | heat sensitive phenotype of cacTS2

      (Kawasaki et al., 2011)
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      DabEC1 is an enhancer of cacTS2. cacTS2;;DabEC1 double mutants exhibit rapid paralysis at 36[o]C.

      (Kawasaki et al., 2011)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to complement

      DabEY10190

      (Kawasaki et al., 2011)
      Rescued by

      DabEC1 is rescued by DabUAS.cWa/Scer\GAL4Appl.G1a

      (Kawasaki et al., 2011)
      Comments

      The DabEC1 synaptic phenotype is rescued by neural (presynaptic) expression of Dap160Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4Appl.G1a.

      (Kawasaki et al., 2011)
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      DabEC1
      dabEC1
      (Kawasaki et al., 2011)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)