FlyBase Allele Report: Dmel\Vap33[Δ31]

General Information

Symbol

Dmel\Vap33^Δ31

Species

D. melanogaster

Name

FlyBase ID

FBal0316818

Feature type

allele

Associated gene

Dmel\Vap33

Associated Insertion(s)

Carried in Construct

Also Known As

vap^Δ31

Key Links

Allele class

amorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Moustaqim-Barrette et al., 2014)

Mutagen

P-element activity

(Moustaqim-Barrette et al., 2014)

Progenitor genotype

P{Mae-UAS.6.11}Vap33^GG01069

(Moustaqim-Barrette et al., 2014)

Cytology

Description

Imprecise excision of the progenitor P{Mae-UAS.6.11}Vap-33A^GG01069 insertion.

(Moustaqim-Barrette et al., 2014)

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 with Vap33^ALS8

(Moustaqim-Barrette et al., 2014)

CEA

(Kamemura et al., 2021, Mao et al., 2019, Moustaqim-Barrette et al., 2014)

model of autosomal dominant adult-onset proximal spinal muscular atrophy

CEA

(Mao et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 8

is ameliorated by Hsap\VAPB^P56S.UAS.cTa

(Kamemura et al., 2021)

is ameliorated by Hsap\VAPB^UAS.cCa

(Kamemura et al., 2021)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Mutants show pupal or pharate adult lethality, with occasional adult escapers.

Membrane proteins accumulate in the endoplasmic reticulum (ER) of neurons in Vap-33A^Δ31 mutant adult escapers. A subset of the adult brain neurons have large intracellular vacuoles. These vacuoles are contiguous with the nuclear membrane and are surrounded by a single membrane which is decorated with ribosomes, suggesting that they correspond to vastly expanded ER. Markers of ER stress are significantly upregulated in the mutant adult brain compared to wild type. Ubiquitinated proteins accumulate in some cortical neurons in adult mutants; clonal analysis indicates that this phenotype is cell autonomous. Accumulation of ubiquitinated proteins is not seen in mutant larvae.

One day old Vap-33A^Δ31 adults are unable to maintain a response in the TTM muscles at 200Hz stimulation of the giant fiber system, but can still respond to 10Hz stimulation.

Vap-33A^Δ31 animals carrying Vap-33A^ALS8 have a severely reduced lifespan. The flies show a progressive flight defect which worsens with age. The brains of 12 day old Vap-33A^Δ31; Vap-33A^ALS8 adults have numerous vacuoles in the optic lobe and central brain (defects are more common in the central lobe). The ability of the TTM muscles to maintain a response to 200Hz stimulation of the giant fiber system is reduced compared to wild type at day 6 and this ability declines over time in Vap-33A^Δ31 ; Vap-33A^ALS8 adults. 12 day old flies show accumulation of ubiquitinated proteins and markers of endoplasmic reticulum stress are significantly upregulated compared to wild type.

(Moustaqim-Barrette et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Vap33^Δ31 has abnormal neuroanatomy | somatic clone | adult stage phenotype, suppressible by Hsap\VAPB^UAS.cCa/Scer\GAL4^GH146

(Kamemura et al., 2021)

Vap33^Δ31 has abnormal neuroanatomy | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^GH146/Hsap\VAPB^P56S.UAS.cTa

(Kamemura et al., 2021)

Vap33^Δ31, Vap33^ALS8 has abnormal flight | progressive phenotype, suppressible by Hsap\OSBPL8^UAS.Tag:HA/Scer\GAL4^C164

(Moustaqim-Barrette et al., 2014)

Vap33^Δ31, Vap33^ALS8 has short lived phenotype, suppressible | partially by Hsap\OSBPL8^UAS.Tag:HA/Scer\GAL4^C164

(Moustaqim-Barrette et al., 2014)

Vap33^Δ31, Vap33^ALS8 has abnormal flight | progressive phenotype, suppressible by Hsap\OSBPL8^UAS.Tag:HA/Scer\GAL4^Toll-6-D42

(Moustaqim-Barrette et al., 2014)

Vap33^Δ31, Vap33^ALS8 has short lived phenotype, suppressible | partially by Hsap\OSBPL8^UAS.Tag:HA/Scer\GAL4^Toll-6-D42

(Moustaqim-Barrette et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Vap33^Δ31 has dendrite | somatic clone | adult stage phenotype, suppressible by Hsap\VAPB^UAS.cCa/Scer\GAL4^GH146

(Kamemura et al., 2021)

Vap33^Δ31 has projection neuron | adult stage | decreased number phenotype, suppressible by Hsap\VAPB^UAS.cCa/Scer\GAL4^GH146

(Kamemura et al., 2021)

Vap33^Δ31 has dendrite | somatic clone | adult stage phenotype, suppressible by Scer\GAL4^GH146/Hsap\VAPB^P56S.UAS.cTa

(Kamemura et al., 2021)

Vap33^Δ31 has projection neuron | adult stage | decreased number phenotype, suppressible by Scer\GAL4^GH146/Hsap\VAPB^P56S.UAS.cTa

(Kamemura et al., 2021)

Other

Statement

Reference

Hsap\VAPB^P56S.UAS.cTa, Scer\GAL4^GH146, Vap33^Δ31 has neuronal cell body | somatic clone | adult stage phenotype

(Kamemura et al., 2021)

Hsap\VAPB^P56S.UAS.cTa, Scer\GAL4^GH146, Vap33^Δ31 has projection neuron | somatic clone | adult stage phenotype

(Kamemura et al., 2021)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The reduction in lifespan and the flight defects seen in 12 day old Vap-33A^Δ31; Vap-33A^ALS8 flies are significantly suppressed by expression of Hsap\OSBPL8^{Scer\UAS.T:Ivir\HA1} under the control of either Scer\GAL4^C164 or Scer\GAL4^Toll-6-D42.

(Moustaqim-Barrette et al., 2014)

Complementation and Rescue Data

Rescued by

Vap33^Δ31 is rescued by Vap33^{UAS.Tag:FLAG,Tag:HA}/Scer\GAL4^GH146

(Kamemura et al., 2021)

Vap33^Δ31 is rescued by Vap33^+tMa

(Moustaqim-Barrette et al., 2014)

Vap33^Δ31/Vap33^ALS8 is rescued by Vap33^+tMa

(Moustaqim-Barrette et al., 2014)

Partially rescued by

Vap33^Δ31 is partially rescued by Vap33^ALS8

(Moustaqim-Barrette et al., 2014)

Comments

Vap-33A^+tMa rescues the lethality of Vap-33A^Δ31 animals and significantly restores lifespan. The giant fiber neuron defects are also rescued.

Vap-33A^ALS8 insertion lines usually (8/11 lines) rescue the lethality of Vap-33A^Δ31 animals, but the rescued adults have a significantly reduced lifespan.

Vap-33A^+tMa rescues the lethality, reduced lifespan, progressive flight defects and central nervous system defects seen in Vap-33A^Δ31 ; Vap-33A^ALS8 animals.

(Moustaqim-Barrette et al., 2014)

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-33A^Δ31

Vap33^Δ31

(Mao et al., 2019)

vap^Δ31

(Kamemura et al., 2021, Moustaqim-Barrette et al., 2014)

Δvap

(Moustaqim-Barrette et al., 2014)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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