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General Information
Symbol
Dmel\TorsinΔE.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0294083
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

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

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).

Allele components
Product class / Tool use(s)
Encoded product / tool
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
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
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.

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.

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
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.

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
Name Synonyms
Secondary FlyBase IDs
    References (2)