FlyBase Allele Report: Dmel\sky[2]

General Information

Symbol

Dmel\sky²

Species

D. melanogaster

Name

FlyBase ID

FBal0258561

Feature type

allele

Associated gene

Dmel\sky

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Uytterhoeven et al., 2011)

Progenitor genotype

Cytology

Description

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 neurodegenerative disease

CEA

(Fernandes et al., 2014)

model of DOORS syndrome

CEA with sky¹, sky^R79C.UAS.GFP

(Fischer et al., 2016)

CEA with sky¹, sky^3Glu.UAS.GFP

(Fischer et al., 2016)

model of Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

CEA with Hsap\TBC1D24^{G501R.UAS.GFP}, sky¹

(Lüthy et al., 2019)

DOES NOT model Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

CEA with Hsap\TBC1D24^{R360H.UAS.GFP}, sky¹

(Lüthy et al., 2019)

CEA with Hsap\TBC1D24^R40C.UAS.GFP, sky¹

(Lüthy et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of neurodegenerative disease

is ameliorated by dor³⁶

(Fernandes et al., 2014)

is ameliorated by dor³⁵

(Fernandes et al., 2014)

is ameliorated by dor³⁰

(Fernandes et al., 2014)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | progressive | somatic clone

(Fernandes et al., 2014)

abnormal neurophysiology | adult stage | somatic clone

(Fernandes et al., 2014)

abnormal neurophysiology | third instar larval stage (with Df(2L)Exel7080)

(Uytterhoeven et al., 2011)

abnormal neurophysiology | third instar larval stage (with sky¹)

(Fernandes et al., 2014, Uytterhoeven et al., 2011)

abnormal neurophysiology | third instar larval stage (with sky^d03436)

(Uytterhoeven et al., 2011)

lethal (with sky^d03436)

(Uytterhoeven et al., 2011)

lethal - all die before end of P-stage (with Df(2L)Exel7080)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky¹)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky^e01084)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky^f06707)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage | recessive

(Uytterhoeven et al., 2011)

some die during pharate adult stage (with Df(2L)Exel7080)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky¹)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky^e01084)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky^f06707)

(Uytterhoeven et al., 2011)

some die during pupal stage | recessive

(Uytterhoeven et al., 2011)

uncoordinated | adult stage (with sky^c00555)

(Uytterhoeven et al., 2011)

uncoordinated | adult stage (with sky^d03436)

(Uytterhoeven et al., 2011)

uncoordinated | adult stage (with sky^f01467)

(Uytterhoeven et al., 2011)

uncoordinated | adult stage (with sky^f02146)

(Uytterhoeven et al., 2011)

uncoordinated | adult stage (with sky^f07070)

(Uytterhoeven et al., 2011)

Phenotype Manifest In

embryonic/larval neuromuscular junction (with Df(2L)Exel7080)

(Uytterhoeven et al., 2011)

embryonic/larval neuromuscular junction (with sky¹)

(Uytterhoeven et al., 2011)

embryonic/larval neuromuscular junction (with sky^d03436)

(Uytterhoeven et al., 2011)

neuromuscular junction (with sky^d03436)

(Uytterhoeven et al., 2011)

retina | progressive | somatic clone

(Fernandes et al., 2014)

Detailed Description

Statement

Reference

The retinas of flies containing homozygous eyes show progressive neurodegeneration under constant light conditions, with many vacuoles accumulating over time (the mutant retinas appear normal in 1 day old flies).

sky¹/sky² larvae show a significant increase in excitatory junctional current amplitude at the neuromuscular junction compared to controls. FM 1-43 dye labelling indicates increased synaptic vesicle trafficking to endosomes.

(Fernandes et al., 2014)

sky²/sky^d03436 larvae paralyse and stand upright in the medium.

Ultrastructurally, boutons of sky²/sky^d03436 neuromuscular junctions show an accumulation of large cisternal-like structures and a concomitant decrease in synaptic vesicle density following stimulation. These cisternal-like structures dissipate upon rest.

The amplitude of the miniature excitatory junctional current (mEJCs) is similar to that of controls at both unstimulated and stimulated sky²/sky^d03436 and sky¹/sky² neuromuscular junctions.

Excitatory junctional potential (EJP) amplitude at the neuromuscular junction is increased in sky¹/sky² third instar larvae compared to controls over a range of Ca[2+] concentrations (0.3-1mM).

Evoked EJC amplitude at the neuromuscular junction is increased and quantal content is almost doubled compared to controls in sky¹/sky² and sky²/sky^d03436 third instar larvae.

(Uytterhoeven et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

sky²/Df(2L)Exel7080 has lethal phenotype, enhanceable by Scer\GAL4^nSyb.PS/Rab5^{S43N.UASp.YFP}

(Uytterhoeven et al., 2011)

Suppressed by

Statement

Reference

sky² has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by dor[+]/dor³⁵

(Fernandes et al., 2014)

sky² has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by dor[+]/dor³⁶

(Fernandes et al., 2014)

sky² has abnormal neuroanatomy | somatic clone | progressive phenotype, suppressible by dor[+]/dor³⁰

(Fernandes et al., 2014)

sky² has abnormal neuroanatomy | somatic clone | progressive phenotype, suppressible by dor[+]/dor³⁵

(Fernandes et al., 2014)

sky² has abnormal neuroanatomy | somatic clone | progressive phenotype, suppressible by dor[+]/dor³⁶

(Fernandes et al., 2014)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by dor[+]/dor³⁰

(Fernandes et al., 2014)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by dor[+]/dor³⁵

(Fernandes et al., 2014)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by dor[+]/dor³⁶

(Fernandes et al., 2014)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by Scer\GAL4^nSyb.PU/Vps39^GD12152

(Fernandes et al., 2014)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by Scer\GAL4^nSyb.PU/Rab7^GD11800

(Fernandes et al., 2014)

sky² has abnormal neurophysiology | somatic clone | adult stage phenotype, suppressible | partially by dor[+]/dor³⁰

(Fernandes et al., 2014)

sky² has lethal phenotype, suppressible | partially by Scer\GAL4^nSyb.PS/Rab35^S22N.UAS.YFP

(Uytterhoeven et al., 2011)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by Hrs[+]/Hrs^D28

(Uytterhoeven et al., 2011)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by TSG101[+]/TSG101^f00976

(Uytterhoeven et al., 2011)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by Vps25[+]/Vps25¹

(Uytterhoeven et al., 2011)

sky¹/sky² has abnormal neurophysiology | third instar larval stage phenotype, suppressible by shrb^k11201/shrb[+]

(Uytterhoeven et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

sky² has retina | somatic clone | progressive phenotype, suppressible by dor[+]/dor³⁰

(Fernandes et al., 2014)

sky² has retina | somatic clone | progressive phenotype, suppressible by dor[+]/dor³⁵

(Fernandes et al., 2014)

sky² has retina | somatic clone | progressive phenotype, suppressible by dor[+]/dor³⁶

(Fernandes et al., 2014)

sky¹/sky² has embryonic/larval neuromuscular junction phenotype, suppressible by Hrs[+]/Hrs^D28

(Uytterhoeven et al., 2011)

sky¹/sky² has embryonic/larval neuromuscular junction phenotype, suppressible by TSG101[+]/TSG101^f00976

(Uytterhoeven et al., 2011)

sky¹/sky² has embryonic/larval neuromuscular junction phenotype, suppressible by Vps25[+]/Vps25¹

(Uytterhoeven et al., 2011)

sky¹/sky² has embryonic/larval neuromuscular junction phenotype, suppressible by shrb^k11201/shrb[+]

(Uytterhoeven et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

The electroretinogram defects seen in homozygous sky² eyes are partially suppressed if the flies are also heterozygous for one of dor³⁰, dor³⁵ or dor³⁶.

The progressive retina neurodegeneration seen in flies containing homozygous sky² eyes is suppressed if the flies are also heterozygous for one of dor³⁰, dor³⁵ or dor³⁶.

The increase in excitatory junctional current amplitude at the neuromuscular junction which is seen in sky¹/sky² larvae is suppressed if they are also heterozygous for one of dor³⁰, dor³⁵ or dor³⁶.

The increased synaptic vesicle trafficking to endosomes seen at the neuromuscular junction in sky¹/sky² larvae is not suppressed if the larvae are also heterozygous for one of dor³⁵ or dor³⁶.

The increase in excitatory junctional current amplitude at the neuromuscular junction which is seen in sky¹/sky² larvae is suppressed if they are also expressing either Vps39^GD12152 or Rab7^GD11800 under the control of Scer\GAL4^nSyb.PU. However, the increased synaptic vesicle trafficking to endosomes seen at the neuromuscular junction in the sky¹/sky² larvae is not suppressed.

(Fernandes et al., 2014)

Expression of Rab5^{S43N.Scer\UAS.P\T.T:Avic\GFP-YFP} under the control of Scer\GAL4^n-syb.PS enhances sky²/Df(2L)Exel7080 lethality; the double mutants die at the first larval instar stage.

Expression of Rab35^{S22N.Scer\UAS.T:Avic\GFP-YFP} under the control of Scer\GAL4^n-syb.PS suppresses sky²/Df(2L)Exel7080 lethality; survival to the third larval instar is significantly improved and some of the double mutants eclose as uncoordinated adults.

The increased excitatory junctional current (EJC) amplitude seen at the neuromuscular junction in sky¹/sky² third instar larvae is suppressed if the larvae are also heterozygous for either Hrs^D28, TSG101^f00976, Vps25¹ or shrb^k11201.

(Uytterhoeven et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

sky¹/sky² is rescued by sky^+tUa

(Uytterhoeven et al., 2011)

sky¹/sky² is rescued by sky^EGFP

(Uytterhoeven et al., 2011)

sky^d03436/sky² is rescued by Scer\GAL4^nSyb.PS, sky^d03436

(Uytterhoeven et al., 2011)

Not rescued by

sky^d03436/sky² is not rescued by Scer\GAL4^C57, sky^d03436

(Uytterhoeven et al., 2011)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

sky²

(Lüthy et al., 2019, Fischer et al., 2016, Fernandes et al., 2014, Uytterhoeven et al., 2011)

Name Synonyms

Secondary FlyBase IDs

References (4)

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