FB2024_03 , released June 25, 2024
Allele: Dmel\Vap33P58S.UAS
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General Information
Symbol
Dmel\Vap33P58S.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0241348
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

Amino acid replacement: P58S.

UAS regulatory sequences drive expression of mutated Vap33 coding sequences.

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

C3951522T

Amino acid change:

P58S | Vap33-PA; P58S | Vap33-PB; P58S | Vap33-PE; P58S | Vap33-PC

Reported amino acid change:

P58S

Comment:

Analogous mutation in human VAPB implicated in amyotrophic lateral sclerosis 8 and spinal muscular atrophy, late onset, Finkel type; mutation carried on in vitro construct; site of nucleotide substitution in fly gene 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 )
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.
VAPB:p.Pro56Ser
Variants Synonym(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Transgenic larvae expressing Vap-33-1P58S.Scer\UAS in neurons (under the control of Scer\GAL4elav-C155) are sluggish and uncoordinated.

Transgenic larvae expressing Vap-33-1P58S.Scer\UAS in neurons (under the control of Scer\GAL4elav-C155) reveal significant heterogeniety in mobility. Approximately 34% of the larvae are completely paralyzed or exhibit very few peristaltic contractions while the majority has a frequency of strides that is only 30% of the wild-type value. Significantly enhanced neuronal death is observed in the central neurons of larvae expressing Vap-33-1P58S.Scer\UAS compared with controls.

The number of boutons in neuromuscular junctions expressing Vap-33-1P58S.Scer\UAS (under the control of Scer\GAL4elav-C155) is approximately 40% of the wild-type number. Although not directly quantified, an increase in bouton size is also observed. A number of other abnormalities such as muscle wasting and synaptic degeneration are often observed at these NMJs.

TEM analysis of wing disc cells expressing Vap-33-1Scer\UAS.cPa under the control of Scer\GAL4C5 reveals clusters of aberrant electron-dense material that is continuous with the rough ER. These clusters are not seen in wild type controls.

Pre-synaptic expression of Vap-33-1Scer\UAS.cPa under the control of Scer\GAL4elav-C155 has no effect on bouton number. Mild defects in flight ability are observed but no defects are detected in the structure of the indirect flight muscles. Subtle but non-significant reductions in the excitatory junctional amplitude (EJP) and (miniEJP) are also seen.

External Data
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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-33-1P58S.Scer\UAS
Vap-33AP58S.Scer\UAS
Vap33P58S.Scer\UAS
Vap33P58S.UAS
Name Synonyms
Secondary FlyBase IDs
    References (4)