FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Vap33T48I.UAS
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General Information
Symbol
Dmel\Vap33T48I.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0264064
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UASt drives expression of the Vap33 cDNA carrying a T48I mutation.

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

C3951493T

Amino acid change:

T48I | Vap33-PA; T48I | Vap33-PB; T48I | Vap33-PC; T48I | Vap33-PE

Reported amino acid change:

T48I

Comment:

Analogous mutation in human VAPB implicated in amyotrophic lateral sclerosis 8; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

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.
VAPB:p.Thr46Ile
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

Neurons of larval brains expressing Vap-33-1T48I.Scer\UAS under the control of Scer\GAL4elav.PU are filled with Vap-33-1 inclusions of various sizes, while numerous massive Vap-33-1 aggregates are visible in nerve fibres. Large Vap-33-1 aggregates are also seen in muscle cells when Vap-33-1T48I.Scer\UAS is expressed using Scer\GAL4C57.

Adult eyes of flies expressing Vap-33-1T48I.Scer\UAS under the control of Scer\GAL4ey.PU are reduced in size and are rough over the entire surface. Ommatidia are disorganized and fused, with missing, irregular and occasional supernumerary mechano-sensory bristles. Photoreceptor morphology is severely disrupted and several vacuoles are visible. Overall, eye size is less than 50% the size of controls.

Endoplasmic reticulum within larval brain cells expressing Vap-33-1T48I.Scer\UAS under the control of Scer\GAL4elav.PU appears fragmented and dispersed, rather than the reticular, perinuclear pattern seen in wild type. The same effect is seen in muscle cells when Vap-33-1T48I.Scer\UAS is expressed using Scer\GAL4C57.

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 (4)
Reported As
Symbol Synonym
Vap-33-1T48I.Scer\UAS
Vap-33AT48I.Scer\UAS
Vap33T48I.Scer\UAS
Vap33T48I.UAS
Name Synonyms
Secondary FlyBase IDs
    References (2)