FlyBase Allele Report: Dmel\Vap33[Δ166]

General Information

Symbol

Dmel\Vap33^Δ166

Species

D. melanogaster

Name

FlyBase ID

FBal0141329

Feature type

allele

Associated gene

Dmel\Vap33

Associated Insertion(s)

Carried in Construct

Also Known As

ΔVAP

Key Links

Allele class

hypomorphic allele - genetic evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Pennetta et al., 2002)

Mutagen

P-element activity

(Pennetta et al., 2002)

Progenitor genotype

Vap33⁴⁷

(Pennetta et al., 2002)

Cytology

Description

Imprecise excision of P{lArB} of Vap-33-1⁴⁷ causing coding region truncation predicted to encode protein of about 20kD.

(Pennetta et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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

model of amyotrophic lateral sclerosis type 8

CEA

(Thulasidharan et al., 2024)

CEA with Vap33^ALS8

(Thulasidharan et al., 2024)

CEA with Vap33^P58S.cRa.UAS

(Tendulkar et al., 2022)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy

(Chai et al., 2008)

abnormal neuroanatomy | third instar larval stage

(Ratnaparkhi et al., 2008)

abnormal neurophysiology

(Chai et al., 2008)

lethal | recessive

(Ratnaparkhi et al., 2008)

lethal - all die before end of larval stage | recessive

(Pennetta et al., 2002)

some die during larval stage | recessive

(Pennetta et al., 2002)

Phenotype Manifest In

NMJ bouton

(Chai et al., 2008, Ratnaparkhi et al., 2008)

synapse

(Chai et al., 2008)

Detailed Description

Statement

Reference

The amplitude of the evoked junctional potentials (EJPs) is not significantly different in synaptic terminals exhibiting fewer and larger boutons relative to controls. An increase in the mean frequency and amplitude of mEJPs when compared with controls is found in Vap-33-1^Δ166 mutant flies. There is a decrease in quantal content of ~40% in mutants compared to controls.

Boutons from Vap-33-1^Δ166 animals display an increase in the number of active zones per bouton cross-sectional area.

Vap-33-1^Δ166 mutant synapses contain larger and fewer varicosities and a compensatory increase in the number of active zones per bouton.

(Chai et al., 2008)

Third instar mutant larvae have enlarged boutons at the neuromuscular junction.

(Ratnaparkhi et al., 2008)

Lethality acts in the 3rd instar, allowing a few adult escapers.

(Pennetta et al., 2002)

External Data

Linkouts

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

Partially rescued by

Vap33^Δ166 is partially rescued by Vap33^UAS.cRa/Scer\GAL4^elav.PLu

(Ratnaparkhi et al., 2008)

Vap33^Δ166 is partially rescued by Vap33^P58S.cRa.UAS/Scer\GAL4^elav.PLu

(Ratnaparkhi et al., 2008)

Comments

Expression of Vap-33-1^Scer\UAS.cRa under the control of Scer\GAL4^elav.PLu rescues the enlarged bouton phenotype seen at the neuromuscular junction of Vap-33-1^Δ166 third instar larvae.

Expression of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^elav.PLu does not rescue the enlarged bouton phenotype seen at the neuromuscular junction of Vap-33-1^Δ166 third instar larvae.

The lethality of hemizygous Vap-33-1^Δ166 males is partially rescued by expression of Vap-33-1^Scer\UAS.cRa or of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^elav.PLu. Greater rescue is seen with Vap-33-1^Scer\UAS.cRa.

(Ratnaparkhi et al., 2008)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

605394

Vap33^Δ166/FM7i, P{ActGFP}JMR3

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (9)

Reported As

Symbol Synonym

DVAP-33^Δ166

(Chai et al., 2008)

DVAP-33A^Δ166

(Chai et al., 2008)

VAP^Δ166

(Ratnaparkhi et al., 2008)

VAPΔ166

(Tendulkar et al., 2022)

Vap-33-1^Δ166

Vap-33A^Δ166

Vap33^Δ166

Δ166

(Thulasidharan et al., 2024)

ΔVAP

(Thulasidharan et al., 2024, Tendulkar et al., 2022)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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