FlyBase Allele Report: Dmel\Dys[E6]

General Information

Symbol

Dmel\Dys^E6

Species

D. melanogaster

Name

FlyBase ID

FBal0216501

Feature type

allele

Associated gene

Dmel\Dys

Associated Insertion(s)

Carried in Construct

Also Known As

dys<up>DLP2 E6</up>

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(van der Plas et al., 2006)

Progenitor genotype

Dys^EP3397

(van der Plas et al., 2006)

Caused by aberration

Df(3R)Dys^E6

Cytology

Description

Dys^E6 lacks the DLP2 muscle-specific isoform but expresses the Dp186 isoform at wild-type levels.

(Fradkin et al., 2008)

A deletion of 2.7kb caused by the imprecise excision of P{EP}Dys^EP3397 removes genomic sequences encoding all of the DLP2 5' untranslated region and extends ~200bp downstream of the DLP2 intiator ATG but does not delete the unique DLP1 first exon.

(van der Plas et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:19,462,327..19,465,027 [+]

Reported_genomic_loc:

3R_r6:19462327..19465027

Comment:

Approximate location of the Dys^E6 deletion resulting from the imprecise excision of P{EP}Dys^EP3397. The deletion is reported as 2.7kb in size and extending to about 200 bp past the DLP2 initiator ATG. DLP2 is the second major transcription start for Dys. The location of the deletion on the reference sequence was inferred by a FlyBase curator. Coordinates were originally reported with respect to the Release 5 genome assembly, and converted to the current Release 6 genome assembly coordinates by a FlyBase curator.

(van der Plas et al., 2006)

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

Phenotype Manifest In

crossvein

(Kucherenko et al., 2008)

crossvein (with Dys^EMS-ModE10)

(Kucherenko et al., 2008)

embryonic/larval somatic muscle cell | third instar larval stage, with Dys^{RNAi.Dp117.UAS}, Scer\GAL4^Mef2.PR

(van der Plas et al., 2007)

eye disc | third instar larval stage (with Dys^8-2)

(Shcherbata et al., 2007)

eye photoreceptor cell | third instar larval stage (with Dys^8-2)

(Shcherbata et al., 2007)

lamina plexus | third instar larval stage (with Dys^8-2)

(Shcherbata et al., 2007)

myosin filament | third instar larval stage

(van der Plas et al., 2007)

neuromuscular junction

(Pilgram et al., 2011)

oocyte (with Df(3R)Delta-X43)

(Shcherbata et al., 2007)

posterior crossvein

(Jantrapirom et al., 2019, Pilgram et al., 2011)

posterior crossvein (with Dys^det-1)

(Pilgram et al., 2011)

presynaptic active zone

(van der Plas et al., 2006)

t-bar

(Pilgram et al., 2011)

terminal bouton

(van der Plas et al., 2006)

wing

(Jantrapirom et al., 2019)

Detailed Description

Statement

Reference

Dys^E6 homozygous or heterozygous adults exhibit wings with partially missing posterior crossvein when compared to controls.

(Jantrapirom et al., 2019)

Dys^E6 mutant adults do not have any difference in benzaldehyde avoidance, compared to controls.

(Jantrapirom et al., 2019)

Most of the posterior crossvein is missing in homozygous Dys^E6 mutants. The remnant of the posterior crossvein is detached, it does not reach the fourth and fifth longitudinal wing veins.

The posterior crossvein appears normal in Dys^E6 heterozygotes.

Dys^E6/Dys^det-1 heterozygotes display posterior crossvein abnormalities.

There is an increase in the number of T-bars at Dys^E6 mutant neuromuscular junctions relative to controls.

Quantal content (QC) at the third larval neuromuscular junction is increased in Dys^E6/+ heterozygotes relative to wild-type controls.

(Pilgram et al., 2011)

Synaptic currents in Dys^E6 are no different in amplitude compared with wild-type. Evoked synaptic currents at the neuromuscular junction are, however, significantly elevated.

(Fradkin et al., 2008)

Homozygous Dys^E6 mutant flies exhibit defects in cross vein formation. No defects are observed in heterozygotes.

One copy of Dys^EMS-ModE10 in a Dys^E6/+ background results in posterior crossvein defects.

(Kucherenko et al., 2008)

Dys^E6/Df(3R)Dl-X43 mutant ovaries show oocyte polarity defects.

Dys^8-2/Dys^E6 mutant third instar larval eye discs develop aberrant neuronal projections from photoreceptor neurons to the brain optic lobes. Axons stop irregularly, making gaps in the normal termination zone of the lamina plexus, deviating from the path and bundling aberrantly. This axon projection phenotype not observed in Dys^8-2/+ mutant discs.

(Shcherbata et al., 2007)

Dys^E6 mutants do not display obvious structural muscle defects either in embryos or in third instar larvae; on the ultrastructural level disoriented myosin filaments are occasionally observed.

(van der Plas et al., 2007)

Dys^E6 mutant larvae do not display statistically significant differences in muscle size, number of boutons, lengths of the synaptic termini, and the number of terminal branches, compared to wild-type controls.

EJP amplitudes, evoked by nerve stimulation at 0.3Hz are approximately 45% increased in Dys^E6 mutants compared with control larvae, due to an increase in presynaptic glutamate release in the mutants. Spontaneous mEJP amplitudes are essentially unchanged in the mutants compared to controls. Quantal content is approximately 50-65% higher in Dys^E6 mutants compared to wild-type. The frequency of spontaneous neurotransmitter release is elevated approximately 35-50% in Dys^E6 mutants.

Dys^E6/Dys^GE20705 trans-heterozygotes exhibit an increase in EJP amplitude compared to controls when evoked by nerve stimulation at 0.3Hz. Quantal content is also significantly higher in Dys^E6/Dys^GE20705 trans-heterozygotes compared to wild-type.

Dys^E6/+ heterozygotes exhibit an increase in EJP amplitude compared to controls when evoked by nerve stimulation at 0.3Hz. Quantal content is also significantly higher in Dys^E6/+ trans-heterozygotes compared to wild-type.

Ca²⁺ cooperativity at Dys^E6 mutant neuromuscular junctions is the same as in the wild-type.

Synaptic boutons in Dys^E6 appear slightly more elongated than in controls. The areas of the bouton occupied by vesicles is increase in Dys^E6 mutants compared with wild-type. The number of active zones with a T-bar relative to the total number of active zones is significantly increased in Dys^E6 mutants by approximately two-fold, whereas the overall number of active zones does not increase.

(van der Plas et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Dys^E6 has visible | adult stage phenotype, enhanceable by Dyb¹¹

(Jantrapirom et al., 2019)

Dys^E6 has visible | recessive phenotype, enhanceable by msk[+]/msk^EMS-Mod90

(Kucherenko et al., 2008)

NOT suppressed by

Statement

Reference

Dys^E6 has abnormal neurophysiology | dominant phenotype, non-suppressible by Scer\GAL4^G14/cv-c^UAS.cDa

(Pilgram et al., 2011)

Other

Statement

Reference

Dys^E6, cv-c¹ has visible | dominant phenotype

(Pilgram et al., 2011)

Dys^E6, nAChRα6^EY13897/nAChRalpha6[+] has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, grh^s2140/grh[+] has visible phenotype

(Kucherenko et al., 2008)

Delta^EMS-Mod130/Dl[+], Dys^E6 has visible phenotype

(Kucherenko et al., 2008)

Delta^EMS-Mod140/Dl[+], Dys^E6 has visible phenotype

(Kucherenko et al., 2008)

Dad^j1E4/Dad[+], Dys^E6 has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, tkv^k16713/tkv[+] has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, Hipk^BG00855/hipk[+] has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, kis^k13416/kis[+] has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, l(3)L4092[+]/l(3)L4092^L4092 has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, Sema-2a[+]/Sema2a^unspecified has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, fra⁴/fra[+] has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, l(2)k03003[+]/l(2)k03003^k03003 has visible phenotype

(Kucherenko et al., 2008)

Dys^E6, wg[+]/wg^spd-1 has visible phenotype

(Kucherenko et al., 2008)

Phenotype Manifest In

Enhanced by

Statement

Reference

Dys^E6 has posterior crossvein phenotype, enhanceable by Dyb¹¹

(Jantrapirom et al., 2019)

Dys^E6 has wing phenotype, enhanceable by Dyb¹¹

(Jantrapirom et al., 2019)

Dys^E6 has posterior crossvein phenotype, enhanceable by msk[+]/msk^EMS-Mod90

(Kucherenko et al., 2008)

NOT suppressed by

Statement

Reference

Dys^E6 has neuromuscular junction phenotype, non-suppressible by Scer\GAL4^G14/cv-c^UAS.cDa

(Pilgram et al., 2011)

Other

Statement

Reference

Dys^E6, wg[+]/wg^spd-1 has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, grh^s2140/grh[+] has posterior crossvein phenotype

(Kucherenko et al., 2008)

Delta^EMS-Mod130/Dl[+], Dys^E6 has posterior crossvein phenotype

(Kucherenko et al., 2008)

Delta^EMS-Mod140/Dl[+], Dys^E6 has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dad^j1E4/Dad[+], Dys^E6 has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, nAChRα6^EY13897/nAChRalpha6[+] has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, tkv^k16713/tkv[+] has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, Hipk^BG00855/hipk[+] has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, kis^k13416/kis[+] has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, l(3)L4092[+]/l(3)L4092^L4092 has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, Sema-2a[+]/Sema2a^unspecified has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, fra⁴/fra[+] has posterior crossvein phenotype

(Kucherenko et al., 2008)

Dys^E6, l(2)k03003[+]/l(2)k03003^k03003 has posterior crossvein phenotype

(Kucherenko et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Dyb¹¹ heterozygosity or homozygosity enhances the posterior crossvein phenotype of Dys^E6 heterozygous adults.

(Jantrapirom et al., 2019)

Most of the posterior crossvein is missing in Dys^E6/+, cv-c¹/+ double heterozygotes. The remnant of the posterior crossvein is detached, it does not reach the fourth and fifth longitudinal wing veins.

The increased quantal content (QC) measured at the neuromuscular junction of Dys^E6/+ mutants is not reduced as a result of expression of cv-c^Scer\UAS.cDa under the control of Scer\GAL4^G14.

Heterozygosity for Cdc42⁴ in a Dys^E6/+ mutant background restores quantal content (QC) to wild-type levels.

(Pilgram et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Dys^GS12472/Dys^E6 is rescued by Scer\GAL4^G14/Dys^GS12472

(van der Plas et al., 2006)

Not rescued by

Dys^GS12472/Dys^E6 is not rescued by Scer\GAL4^RapGAP1-OK6/Dys^GS12472

(van der Plas et al., 2006)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Dys<up>DLP2 E6</up>

(Jantrapirom et al., 2019, Jantrapirom et al., 2019)

Dys^E6

(Pilgram et al., 2011, Fradkin et al., 2008, Kucherenko et al., 2008)

Dys^e6

(Shcherbata et al., 2007)

det^E6

dys<up>DLP2 E6</up>

(van der Plas et al., 2007)

dys^E6

(van der Plas et al., 2007, van der Plas et al., 2006)

Name Synonyms

Secondary FlyBase IDs

References (8)

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