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General Information
Symbol
Dmel\Vap33V260I.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0295842
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
point mutation
Nucleotide change:

G3952890A

Amino acid change:

V226I | Vap33-PA; V260I | Vap33-PB; V260I | Vap33-PC; V260I | Vap33-PE

Reported amino acid change:

V260I

Comment:

Analogous V234I mutation in human VAPB implicated in amyotrophic lateral sclerosis type 8; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: V260I.

UASt regulatory sequences drive expression of mutated Vap33 coding sequences.

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

Pan-neural expression of Vap-33AV260I.Scer\UAS under the control of Scer\GAL4elav-C155 results in changes in the neuromuscular junction, with an increase in the total number of synaptic boutons, compared to controls. Bouton size, however, is dramatically reduced. Many small boutons appear to bud off from a central bouton or from neuronal processes connecting two boutons. Indeed, presynaptic expression of Vap-33AV260I.Scer\UAS induces a 2.6-fold increase in the percentage of 'satellite' boutons compared to controls.

Neuronal expression of Vap-33AV260I.Scer\UAS under the control of Scer\GAL4elav-C155 affects the organization of microtubule architecture, with consequences on synaptic bouton formation and division.

Post-synaptic expression of Vap-33AV260I.Scer\UAS under the control of Scer\GAL4C57 induces aggregate formation and changes in nuclear shape, size and positioning. Muscle fiber nuclei are more closely associated in these mutants and exhibit a tendency to cluster. The nuclei are also deformed into an elongated structure and display a marked enlarged nuclear volume compared to controls. In addition, an increased number of small and condensed pyknotic nuclei are observed in these muscles.

Large, malformed nuclei are observed in larval brains expressing Vap-33AV260I.Scer\UAS under the control of Scer\GAL4elav-C155. These neurons exhibit prominent inclusions that appear to be very large and intensely immunoreactive to Vap-33A.

Flies expressing Vap-33AV260I.Scer\UAS under the control of Scer\GAL4elav-C155 are able to pupate. However, there is a strong reduction in the number of flies eclosed as viable adults in these mutants, with only 35% of pupae eclosing to viable adults. These flies display distinctive postural and locomotion defects as viable adults, such as droopy and held-up wings. These flies are severely uncoordinated and within a few days of eclosion find themselves stuck to their food and die.

Targeted expression of Vap-33AV260I.Scer\UAS in the adult eye, under the control of Scer\GAL4ey.PU, results in a range of structural abnormalities. Compared to controls, these eyes are reduced in size and show a marked roughness over the entire surface. There is a high degree of heterogeneity in the severity of the phenotype within the same line and indeed in the same fly. Overall, the eye size of Vap-33AV260I.Scer\UAS-expressing mutants is less than 50% of the control size. Photoreceptor morphology is disrupted in these flies, with several vacuoles found.

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 (3)
Reported As
Symbol Synonym
Vap-33AV260I.Scer\UAS
Vap33V260I.Scer\UAS
Vap33V260I.UAS
Name Synonyms
Secondary FlyBase IDs
    References (1)