FlyBase Allele Report: Dmel\wrd[104]

General Information

Symbol

Dmel\wrd¹⁰⁴

Species

D. melanogaster

Name

FlyBase ID

FBal0241372

Feature type

allele

Associated gene

Dmel\wrd

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Viquez et al., 2006)

Progenitor genotype

wrd^GS2535

(Viquez et al., 2006)

Cytology

Description

Imprecise excision of PP2A-B'^GS2535 generates a deletion of exons 4 and 5 as well as some exons common to all splice forms of PP2A-B'.

(Viquez et al., 2006)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates autism spectrum disorder

modeled by Rim¹⁰³

(Genç et al., 2020)

modeled by bchs⁵⁸

(Genç et al., 2020)

modeled by kis¹

(Genç et al., 2020)

modeled by Chd1¹

(Genç et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | larval stage (with Df(3R)DG4)

(Viquez et al., 2006)

abnormal neuroanatomy | larval stage | recessive

(Viquez et al., 2006)

abnormal neurophysiology | larval stage (with Df(3R)DG4)

(Viquez et al., 2006)

abnormal neurophysiology | larval stage | recessive

(Viquez et al., 2006)

Phenotype Manifest In

bouton & neuromuscular junction | larval stage

(Viquez et al., 2006)

bouton & neuromuscular junction | larval stage (with Df(3R)DG4)

(Viquez et al., 2006)

microtubule & neuromuscular junction | larval stage

(Viquez et al., 2006)

synapse

(Li et al., 2014)

synaptic vesicle

(Li et al., 2014)

Detailed Description

Statement

Reference

PP2A-B'¹⁰⁴ mutant larvae exhibit a vesicle localization phenotype, with ectopic aggregates of VGlut present at distal axon regions just proximal to the synaptic nerve terminal. This ectopic accumulation near synaptic termini occurs early in synaptic development and is not attributable to a gradual accumulation of synaptic vesicles during synaptic terminal growth.

(Li et al., 2014)

The neuromuscular junctions of PP2A-B'¹⁰⁴/PP2A-B'¹⁰⁴ or PP2A-B'¹⁰⁴/Df(3R)DG4 larvae display a 37% decrease in bouton number and a 49% increase in bouton size relative to wild-type, with boutons displaying a more smoothly rounded contour than wild-type boutons. These synapses also show defects in evoked transmitter release, due to reduced release of synaptic vesicles in response to an action potential. Estimates of quantal content demonstrate that only half as many synaptic vesicles are released by an action potential at mutant NMJs. Microtubule bundling and stability are decreased in pre-synaptic microtubules of PP2A-B'¹⁰⁴/PP2A-B'¹⁰⁴ larvae.

PP2A-B'¹⁰⁴ homozygotes display a 61% increase in unbundled microtubules compared with wild-type larvae at the NMJ. PP2A-B'¹⁰⁴/Df(3R)DG4 transheterozygotes display a similar increase.

(Viquez et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

PP2A-B'[+], wrd¹⁰⁴, Scer\GAL4^elav.PLu is an enhancer of abnormal neuroanatomy phenotype of Scer\GAL4^elav.PLu, mts^dn181.UAS

(Viquez et al., 2006)

Phenotype Manifest In

Suppressed by

Statement

Reference

wrd¹⁰⁴ has synaptic vesicle phenotype, suppressible by Liprin-α^UAS.GFP/Scer\GAL4^Toll-6-D42

(Li et al., 2014)

wrd¹⁰⁴ has synapse phenotype, suppressible by Liprin-α^UAS.GFP/Scer\GAL4^Toll-6-D42

(Li et al., 2014)

wrd¹⁰⁴ has synaptic vesicle phenotype, suppressible by Scer\GAL4^Toll-6-D42/RhoGAP100F^UAS.EGFP

(Li et al., 2014)

wrd¹⁰⁴ has synapse phenotype, suppressible by Scer\GAL4^Toll-6-D42/RhoGAP100F^UAS.EGFP

(Li et al., 2014)

wrd¹⁰⁴ has synaptic vesicle phenotype, suppressible by sgg^G0055/sgg[+]

(Li et al., 2014)

wrd¹⁰⁴ has synapse phenotype, suppressible by sgg^G0055/sgg[+]

(Li et al., 2014)

Enhancer of

Statement

Reference

PP2A-B'[+], wrd¹⁰⁴, Scer\GAL4^elav.PLu is an enhancer of microtubule & neuromuscular junction | larval stage phenotype of Scer\GAL4^elav.PLu, mts^dn181.UAS

(Viquez et al., 2006)

Other

Statement

Reference

futsch^K68, PP2A-B'[+]/wrd¹⁰⁴ has bouton & neuromuscular junction | larval stage phenotype

(Viquez et al., 2006)

futsch^K68/futsch[+], wrd¹⁰⁴ has bouton & neuromuscular junction | larval stage phenotype

(Viquez et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Neuronal expression of Liprin-α^{Scer\UAS.T:Avic\GFP} under the control of Scer\GAL4^D42 substantially clears VGlut accumulation at the distal axons of PP2A-B'¹⁰⁴ mutants.

Neuronal expression of RhoGAP100F^{Scer\UAS.N.T:Avic\GFP-EGFP} under the control of Scer\GAL4^D42 substantially clears VGlut accumulation at the distal axons of PP2A-B'¹⁰⁴ mutants.

A sgg^G0055 heterozygous background suppresses the PP2A-B'¹⁰⁴ mutant distal axon phenotype.

(Li et al., 2014)

The neuromuscular junctions of futsch^K68/+; PP2A-B'¹⁰⁴/+ larvae have signficantly larger boutons than wild-type. In contrast, either heterozygote alone has normal sized boutons.

A PP2A-B'¹⁰⁴ heterozygote background significantly enhances the unbundling phenotype of neuronal mts^{dn181.Scer\UAS} expression (under the control of Scer\GAL4^elav.PLu), leading to a 46% increase in unbundled relative to mts^{dn181.Scer\UAS} expression alone. In addition, the cytoskeletal morphology of these double mutants is more severely disrupted than in mts^{dn181.Scer\UAS} mutants. Simultaneously inhibiting mts and PP2A-B' results in synapses in which microtubules are splayed or punctate through the normally stable core region of the synaptic terminal.

(Viquez et al., 2006)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

wrd¹⁰⁴ is rescued by wrd^UAS.EGFP/Scer\GAL4^Toll-6-D42

(Li et al., 2014)

Partially rescued by

wrd¹⁰⁴ is partially rescued by Scer\GAL4^elav-C155/wrd^RD.UAS

(Viquez et al., 2006)

wrd¹⁰⁴ is partially rescued by Scer\GAL4^G7/wrd^RD.UAS

(Viquez et al., 2006)

Comments

Neuronal expression of PP2A-B'^RD.Scer\UAS under the control of Scer\GAL4^elav-C155 rescues the morphological phenotype associated with PP2A-B'¹⁰⁴, leading to a 54% decrease in bouton size and a 161% increase in bouton number relative to PP2A-B'¹⁰⁴ homozygotes. However, quantal content is not rescued.

Muscle-specific overexpression of PP2A-B'^RD.Scer\UAS using Scer\GAL4^G7 in the homozygous PP2A-B'¹⁰⁴ mutant background results in a modest reduction in bouton size, although boutons remain 37% larger than in wild-type larvae. Muscle-specific expression of PP2A-B'^RD.Scer\UAS rescues the quantal content defect found in a homozygous PP2A-B'¹⁰⁴ mutant background.

However, the muscle-specific overexpression does rescue the deficient evoked transmitter release of PP2A-B'¹⁰⁴ homozygotes. Neuronal expression of PP2A-B'^RD.Scer\UAS in PP2A-B'¹⁰⁴ homozygotes decreases the proportion of unbundled microtubules seen in the mutants alone.

(Viquez et al., 2006)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

Immunoblots of extract from PP2A-B'¹⁰⁴ homozygotes and PP2A-B'¹⁰⁴ over deficiency Df(3R)189 show no PP2A-B' protein, though small N-terminal protein fragments would not be detected.

(Viquez et al., 2006)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

PP2A-B'¹⁰⁴

PPP2R5D¹⁰⁴

(Genç et al., 2020)

wrd¹⁰⁴

(Neal et al., 2022, Genç et al., 2020, Li et al., 2014, Viquez et al., 2006)

Name Synonyms

Secondary FlyBase IDs

References (4)

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