FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TOR1AΔE.UAS
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General Information
Symbol
Hsap\TOR1AΔE.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0246207
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-ΔE HtorA
Key Links
Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulatory sequences drive expression of a modified form of Hsap\TOR1A, missing a glutamic acid codon at amino acid position 302/303.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
TOR1A:p.Glu303del
Variants Synonym(s)
TOR1A:p.Glu302del
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4tub.PU exhibit significantly more susceptibility to H[[2]]O[[2]]- or paraquat- induced oxidative stress than controls. Susceptibility to tunicamycin-induced stress is also increased but there is no difference in sensitivity to the protein sulphide bond reducing compound dithiothreitol (DTT). Flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4tub.PU are sensitive to the autophagy inhibitors 3-MA, Wortmannin and LY294002 in comparison with controls.

Flies expressing Hsap\TOR1AΔE.Scer\UAS in muscles (under the control of Scer\GAL4C57) or in neurons (Scer\GAL4elav-C155) become severely incapacitated when exposed to high temperatures (38[o]C), whereas the majority of control flies remain active.

Larvae expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 exhibit aberrant bouton morphologies: the number of type I synaptic boutons is similar to controls, but the boutons are bigger and have more abnormal protrusions. The average length of the boutons does not differ from controls but the average surface area, volume and number of T-shaped active zones per bouton are all increased.

Abnormal free dense bodies are observed at the presynaptic terminals of larvae of larvae expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155. In contrast to controls, the post-synaptic subsynaptic reticulum is interrupted by small clearings in ~20% of larvae. The average area of the synapse is significantly increase compared with the average area of control synapses. There are increased number of functional synapses (ones with T-shaped active zones) and silent synapses (synapses lacking T-shaped active zones).

Flies expressing Hsap\TOR1AΔE.Scer\UAS in all neurons under the control of Scer\GAL4elav-C155 show striking behavioural differences compared to controls flies when subjected to a 38[o]C temperature shift for 10 minutes, and these abnormalities become more pronounced with age. 3-day old flies exhibit impaired locomotor control at 38[o]C, and by day 6, 90% of flies are severely incapacitated within 1 minute of exposure to 38[o]C. Flies exhibit twisting movements, and convulsive-like leg and wing movements.

There is no significant difference in the number of type I synaptic boutons in larvae expressing Hsap\TOR1AΔE.Scer\UAS in all neurons under the control of Scer\GAL4elav-C155 or in muscles under the control of Scer\GAL4C57. However, synaptic boutons are enlarged and many have abnormal irregular shapes compared to the smooth rounded appearance of synaptic boutons observed in control animals. Defects are also observed at regions of synaptic contact including an absence of synaptic vesicle pools near some synapses, abnormal membrane structures at the synapse, free dense bodies at the presynaptic terminal (rather than anchored to the membrane), and a signifiant increase in synaptic density area compared with control boutons.

Flies expressing Hsap\TOR1AΔE.Scer\UAS in dopaminergic neurons under the control of Scer\GAL4Ddc.PL show behavioural differences compared to controls flies when subjected to a 38[o]C temperature shift for 10 minutes. Over 90% of 12-day old flies exhibit loss of locomotor control at 38[o]C.

Post-synaptic expression of Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4C57 in muscles results in an age- and temperature-dependent loss of locomotor control, with over 90% of 9-day old flies remaining on the bottom of the vial when subjected to 38[o]C temperatures during a 10 minute period.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Suppressed by
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Expression of Hsc70-3VDRC.cUa induces early death in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 compared with controls.

Expression of Xbp1VDRC.cUa induces early death in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 compared with controls.

Xbp1k13803 induces early death in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 compared with controls.

Atf6GD14782 induces early death in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 compared with controls.

PEKVDRC.cUa induces early death in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 compared with controls.

Expression of SmoxScer\UAS.cZa in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 substantially rescues the locomotor defects seen when Hsap\TOR1AΔE.Scer\UAS is expressed alone in flies subjected to 38[o]C. Larval synaptic bouton morphology is also rescued in these animals.

Expression of MadScer\UAS.cNa in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 does not suppress the locomotor defects observed in flies expressing Hsap\TOR1AΔE.Scer\UAS alone.

The locomotor defects in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 observed at 38[o]C are not enhanced in a Smox1/+ background.

Expression of Hsap\MADH2Scer\UAS.cMa in flies expressing Hsap\TOR1AΔE.Scer\UAS under the control of Scer\GAL4elav-C155 substantially rescues the locomotor defects seen when Hsap\TOR1AΔE.Scer\UAS is expressed alone in flies subjected to 38[o]C.

Complementation and Rescue Data
Comments
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
Hsap\TOR1AΔE.Scer\UAS
Hsap\TOR1AΔE.UAS
Name Synonyms
Secondary FlyBase IDs
    References (4)