FlyBase Allele Report: Dmel\tweek[2]

General Information

Symbol

Dmel\tweek²

Species

D. melanogaster

Name

FlyBase ID

FBal0241649

Feature type

allele

Associated gene

Dmel\tweek

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Verstreken et al., 2009)

Progenitor genotype

Cytology

Description

Mutation in the splice acceptor site before exon 20, which is predicted to result in a frameshift.

(Verstreken et al., 2009)

Nucleotide substitution: G?A.

(Verstreken et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:16,911,703..16,911,703 [+]

Nucleotide change:

G16911703A

Reported nucleotide change:

G?A

Comment:

A mutation in the splice acceptor site before exon 20 (AG to AA).

(Verstreken et al., 2009)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology (with Df(2L)Exel8036)

(Verstreken et al., 2009)

abnormal neurophysiology (with tweek¹)

(Verstreken et al., 2009)

abnormal neurophysiology (with tweek^c01084)

(Verstreken et al., 2009)

abnormal neurophysiology | somatic clone

(Verstreken et al., 2009)

embryonic/larval segmentation phenotype

(Blundon et al., 2016)

lethal (with tweek^EY02585-Δ1)

(Verstreken et al., 2009)

lethal | pharate adult stage (with tweek^EY02585-Δ1)

(Verstreken et al., 2009)

lethal - all die before end of P-stage (with Df(2L)Exel8036)

(Verstreken et al., 2009)

lethal - all die before end of P-stage (with tweek¹)

(Verstreken et al., 2009)

lethal - all die before end of P-stage (with tweek^c01084)

(Verstreken et al., 2009)

lethal - all die before end of P-stage | recessive

(Verstreken et al., 2009)

some die during embryonic stage

(Blundon et al., 2016)

some die during pharate adult stage (with Df(2L)Exel8036)

(Verstreken et al., 2009)

some die during pharate adult stage (with tweek¹)

(Verstreken et al., 2009)

some die during pharate adult stage (with tweek^c01084)

(Verstreken et al., 2009)

some die during pharate adult stage | recessive

(Verstreken et al., 2009)

uncoordinated | adult stage

(Verstreken et al., 2009)

uncoordinated | adult stage (with Df(2L)Exel8036)

(Verstreken et al., 2009)

uncoordinated | adult stage (with tweek¹)

(Verstreken et al., 2009)

uncoordinated | adult stage (with tweek^c01084)

(Verstreken et al., 2009)

uncoordinated | adult stage (with tweek^EY02585-Δ1)

(Verstreken et al., 2009)

Phenotype Manifest In

embryonic/first instar larval cuticle

(Blundon et al., 2016)

embryonic/larval neuromuscular junction | somatic clone | third instar larval stage (with tweek¹)

(Khuong et al., 2010)

synaptic vesicle (with Df(2L)Exel8036)

(Verstreken et al., 2009)

Detailed Description

Statement

Reference

Progeny of tweek²/+ parents have a reduction in embryonic survival; those that die usually have severe cuticle and patterning defects.

(Blundon et al., 2016)

The neuromuscular junctions of tweek¹/tweek² third instar larvae are larger than in controls (mutants generated using the eyFLP method).

(Khuong et al., 2010)

Most homozygous, tweek²/Df(2L)Exel8036, tweek¹/tweek², tweek²/tweek^c01084 and tweek²/tweek^EY02585-Δ1 animals die as pharate adults, although a few adult escapers are seen. These adult escapers are severely uncoordinated.

Flies with homozygous eyes (made using the eyFLP method) have abnormal electroretinograms, with severely reduced "on" and "off" transient amplitudes compared to controls.

tweek¹/tweek², tweek²/Df(2L)Exel8036 and tweek²/tweek^c01084 mutants have a normal excitatory junctional potential amplitude during low-frequency stimulation (< 1Hz).

tweek²/Df(2L)Exel8036 and tweek²/tweek^c01084 mutants show a decline in excitatory junctional potential amplitude to approximately 55-60% of the initial response when stimulated at 10Hz in 5mM Ca[2+] (controls maintain release at about 90% of the initial response after 10 minutes under these conditions).

tweek¹/tweek², tweek²/Df(2L)Exel8036 and tweek²/tweek^c01084 animals show a significant reduction of FM1-43 dye uptake at the third larval instar neuromuscular junction compared to controls.

Synaptic vesicle density is reduced at the tweek²/Df(2L)Exel8036 third larval instar neuromuscular junction, and the mutant boutons also contain more large diameter vesicles than control boutons. Mitochondrial number and structure, dense body number and morphology and the number of docked synaptic vesicles within a 200nm radius around dense bodies are normal.

The amplitude of spontaneous excitatory junctional potentials (mEJPs) is increased in tweek¹/tweek² animals compared to controls.

The amplitude of spontaneous excitatory junctional currents (mEJCs) is increased and the frequency of mEJCs is decreased in tweek²/Df(2L)Exel8036 and tweek²/tweek^c01084 animals compared to controls. Quantal content is decreased in tweek²/Df(2L)Exel8036 and tweek²/tweek^c01084 animals compared to controls.

(Verstreken et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

tweek²/tweek¹ has embryonic/larval neuromuscular junction | third instar larval stage | somatic clone phenotype, non-enhanceable by Df(3R)3450/WASp¹

(Khuong et al., 2010)

tweek²/tweek¹ has embryonic/larval neuromuscular junction | third instar larval stage | somatic clone phenotype, non-enhanceable by nwk¹

(Khuong et al., 2010)

tweek²/tweek¹ has embryonic/larval neuromuscular junction | third instar larval stage | somatic clone phenotype, non-enhanceable by Scer\GAL4^nSyb.PS/Avic\GFP^{EGFP.UAS.Tag:PH(hPLCD1)}

(Khuong et al., 2010)

tweek²/tweek¹ has embryonic/larval neuromuscular junction | third instar larval stage | somatic clone phenotype, non-enhanceable by Scer\GAL4^nSyb.PS/Avic\GFP^{EGFP.PLCD1(PH-S39R).UAS}

(Khuong et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

WASp¹/Df(3R)3450 does not enhance the neuromuscular junction overgrowth phenotype seen in tweek¹/tweek² third instar larvae.

nwk¹ does not enhance the neuromuscular junction overgrowth phenotype seen in tweek¹/tweek² third instar larvae.

(Khuong et al., 2010)

The reduction in FM1-43 dye uptake that is seen in tweek¹/tweek² and tweek²/Df(2L)Exel8036 animals is partially suppressed by synj¹/+.

(Verstreken et al., 2009)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\PLCD1^{PH.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^n-syb.PS does not enhance the neuromuscular junction overgrowth phenotype seen in tweek¹/tweek² third instar larvae.

Expression of Hsap\PLCD1^{PH.S39R.Scer\UAS.T:Avic\GFP-EGFP} under the control of Scer\GAL4^n-syb.PS does not enhance the neuromuscular junction overgrowth phenotype seen in tweek¹/tweek² third instar larvae.

(Khuong et al., 2010)

Complementation and Rescue Data

Fails to complement

tweek^EY02585-Δ1

(Verstreken et al., 2009)

tweek^EY02585

(Verstreken et al., 2009)

tweek^c01084

(Verstreken et al., 2009)

Rescued by

tweek²/tweek¹ is rescued by tweek^+tHB69

(Khuong et al., 2010)