FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\DCTN1-p150G50R.UAS.Tag:HA
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General Information
Symbol
Dmel\DCTN1-p150G50R.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0277616
Feature type
allele
Associated gene
Dmel\DCTN1-p150
Associated Insertion(s)
Carried in Construct
P{UAS-DCTN1-p150.G50R.HA}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Lloyd et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Lloyd et al., 2012)
Mutagen
in vitro construct
(Lloyd et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-DCTN1-p150.G50R.HA}
Cytology
Description

UAS regulatory sequences drive expression of DCTN1-p150 containing the amino acid replacement G50R. The protein is also tagged with a Tag:HA epitope.

(Lloyd et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
DCTN1-p150
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:13,929,996..13,929,996 [+]
Nucleotide change:

G13929996C

Amino acid change:

G50R | DCTN1-p150-PA

Reported amino acid change:

G50R

Comment:

Mutation in analogous codon in human DCTN1 implicated in Perry syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Lloyd et al., 2012)
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  Perry syndrome
      CEA
      (Hosaka et al., 2017)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Perry syndrome
      is ameliorated by TBPHΔ23
      (Hosaka 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.
      (Lloyd et al., 2012)
      DCTN1:p.Gly71Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      DCTN1:p.Gly54Arg
      Associated human disease model(s)
      External database links
      ClinVar: DCTN1_8406
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Adults expressing DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4ple.PF exhibit a significant decrease in lifespan and a significant, progressive decrease in climbing performance (detected at day 45, but not day 5, post eclosion), but 45 days old adults do not display a significant decrease in spontaneous locomotor activity or significant changes in the number of PPM1/2, PPM3 or PPL1 neurons, as compared to controls.

      The third instar larval neuromuscular junctions of individuals expressing DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4RapGAP1-OK6 display a significant increase in the size of both proximal and distal terminal boutons, without affecting their number, display a significant increase in the density of active zones and display a decrease in the number of synaptic vesicles at active zones, as compared to controls. Neurotransmission across these neuromuscular junctions presents significant decreases in excitatory junction potential amplitude and quantal content, but does not present significant changes in miniature excitatory junction potential frequency and amplitude, or in paired-pulse ratio, as compared to controls.

      The third instar larval neuromuscular junction of individuals expressing DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Toll-6-D42 displays a significant increase in the density of dense core vesicles in distal, but not proximal, terminal boutons, and a significant increase in their size, as compared to controls; the respective axonal dense core vesicles also exhibit a significant increase in size and a defective axonal transport, as shown by significant decreases in both anterograde and retrograde transport, as compared to controls.

      (Hosaka et al., 2017)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      NOT suppressed by
      Suppressor of
      NOT Suppressor of
      Phenotype Manifest In
      Suppressed by
      NOT suppressed by
      Enhancer of
      Suppressor of
      NOT Suppressor of
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      The decreases in adult climbing performance and in lifespan exhibited upon the expression of DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4ple.PF or exhibited by TBPHΔ23 heterozygotes are partially suppressed in TBPHΔ23 heterozygotes expressing DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4ple.PF. The expression of DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4ple.PF also partially suppresses the decreased number of PPL1 neurons in the adult brain, but not the spontaneous locomotion defects, presented by 45 days old TBPHΔ23 heterozygotes.

      The following third instar larval neuromuscular junction defects induced by the expression of DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 are fully or partially suppressed by TBPHΔ23 heterozygosity: increased size of proximal terminal boutons, increased density of active zones at terminal boutons, decreased excitatory junction potential amplitude and decreased quantal content (Scer\GAL4RapGAP1-OK6-driven expression); increased density of dense core vesicles in distal terminal boutons, but not in axons (Scer\GAL4Toll-6-D42-driven expression). The following neuromuscular junction defects are not significantly suppressed or enhanced by TBPHΔ23 heterozygosity: increased size of distal terminal boutons (Scer\GAL4RapGAP1-OK6-driven expression); increased size of dense core vesicles in axons (Scer\GAL4Toll-6-D42-driven expression).

      Individuals expressing DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Toll-6-D42 in a TBPHΔ23 heterozygous background exhibit defects in the axonal transport of dense core vesicles at the third instar larval neuromuscular junction which are intermediate between the defects observed upon the expression of DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Toll-6-D42 and the defects observed in TBPHΔ23 heterozygotes. These individuals also exhibit the same increase in the number synaptic vesicles at active zones in the third instar larval neuromuscular junction as upon the expression of DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Toll-6-D42 alone, rather than the decrease in the number synaptic vesicles observed in TBPHΔ23 heterozygotes.

      (Hosaka et al., 2017)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      Comments
      Comments

      The protein produced carries the G50R mutation, which is equivalent to the human Perry syndrome mutation G71R.

      (Lloyd et al., 2012)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (4)
      Reported As
      Symbol Synonym
      DCTN1-p150G50R.Scer\UAS.T:Ivir\HA1
      DCTN1-p150G50R.UAS.Tag:HA
      GlG50R.Scer\UAS.T:Ivir\HA1
      p150G50R-HA
      (Lloyd et al., 2012)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)