FB2024_03 , released June 25, 2024
Allele: Dmel\TorsinΔE.UAS
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General Information
Symbol
Dmel\TorsinΔE.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0294083
Feature type
allele
Associated gene
Dmel\Torsin
Associated Insertion(s)
Carried in Construct
P{UAS-Torsin.ΔE}
Key Links
Transgenic product class
dominant_negative_variant
(Wakabayashi-Ito et al., 2015)
inframe_deletion
(Wakabayashi-Ito et al., 2015, Jokhi et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
dominant_negative_variant
(Wakabayashi-Ito et al., 2015)
inframe_deletion
(Wakabayashi-Ito et al., 2015, Jokhi et al., 2013)
Mutagen
in vitro construct
(Jokhi et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-Torsin.ΔE}
Cytology
Description

UAS regulatory sequences drive expression of Torsin in which the amino acid residue E306 has been deleted. This results in a dominant-negative protein.

(Wakabayashi-Ito et al., 2015)

UAS regulatory sequences drive expression of Torsin containing a deletion of amino acid residue E306. (FlyBase curator comment: FBrf0223228 states that this change is equivalent to a pathogenic mutation (deletion of E303) in the orthologous human TOR1A gene, a change that is dominantly linked to dystonia. However, comparative alignment of the two genes suggests that E303 in the human gene falls in a region that does not appear to be conserved between the two species, and that E306 in the D. melanogaster Torsin gene is analogous to E294 in the human TOR1A gene).

(Jokhi et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Torsin
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  dystonia
      CEA
      (Jokhi et al., 2013)
      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

      Expression of TorsinΔE.Scer\UAS under the control of Scer\GAL4elav.PU results in deficit in larval locomotion (decreased peristaltic rate) in third instar larvae.

      (Wakabayashi-Ito et al., 2015)

      The number of normal synaptic boutons at the neuromuscular junction is significantly reduced compared to wild type in third instar larvae expressing TorsinΔE.Scer\UAS under the control of Scer\GAL4C57, while the number of undifferentiated 'ghost' boutons is significantly increased.

      (Jokhi et al., 2013)
      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
      Fails to rescue

      Scer\GAL4elav.PU, TorsinUAS.cWa, TorsinΔE.UAS fails to rescue TorsinKO13

      (Wakabayashi-Ito et al., 2015)

      Scer\GAL4elav.PU/TorsinΔE.UAS fails to rescue TorsinKO13

      (Wakabayashi-Ito et al., 2015)
      Comments

      The deficit in larval locomotion (decreased peristaltic rate) characteristic for TorsinKO13 hemizygous male third instar larvae cannot be rescued by expression of TorsinΔE.Scer\UAS either alone or in combination with TorsinScer\UAS.cWa under the control of Scer\GAL4elav.PU.

      (Wakabayashi-Ito et al., 2015)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      TorsinΔE.Scer\UAS
      TorsinΔE.UAS
      TorsinΔE
      (Jokhi et al., 2013)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)