FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TOR1AΔFY.UAS
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General Information
Symbol
Hsap\TOR1AΔFY.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0246208
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
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 modified form of Hsap\TOR1A, containing an 18bp deletion removing F323-Y328.

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 ( 0 )
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.Phe323_Tyr328del
Variants Synonym(s)
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\TOR1AΔFY.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\TOR1AΔFY.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\TOR1AΔFY.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).

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
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\TOR1AΔFY.Scer\UAS
Hsap\TOR1AΔFY.UAS
Name Synonyms
Secondary FlyBase IDs
    References (3)