FlyBase Allele Report: Dmel\sky[1]

General Information

Symbol

Dmel\sky¹

Species

D. melanogaster

Name

FlyBase ID

FBal0258560

Feature type

allele

Associated gene

Dmel\sky

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

(Uytterhoeven et al., 2011)

Progenitor genotype

Cytology

Description

Amino acid replacement: G543R.

(Uytterhoeven et al., 2011)

Nucleotide substitution: G?A.

(Uytterhoeven et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:20,873,886..20,873,886 [-]

Nucleotide change:

G20873886A

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

543R

Comment:

The nucleotide change in sky¹ is detailed in Figure S1.

(Uytterhoeven et al., 2011)

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 DOORS syndrome

CEA with sky², sky^R79C.UAS.GFP

(Fischer et al., 2016)

CEA with sky², 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}, sky²

(Lüthy et al., 2019)

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

CEA with Hsap\TBC1D24^{R360H.UAS.GFP}, sky²

(Lüthy et al., 2019)

CEA with Hsap\TBC1D24^R40C.UAS.GFP, sky²

(Lüthy et al., 2019)

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 | third instar larval stage (with sky²)

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

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

(Uytterhoeven et al., 2011)

lethal - all die before end of first instar larval stage (with Df(2L)Exel7080)

(Uytterhoeven et al., 2011)

lethal - all die before end of first instar larval stage (with sky^e01084)

(Uytterhoeven et al., 2011)

lethal - all die before end of first instar larval stage (with sky^f06707)

(Uytterhoeven et al., 2011)

lethal - all die before end of P-stage (with sky^f01467)

(Uytterhoeven et al., 2011)

lethal - all die before end of P-stage (with sky^f07070)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky²)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky^c00555)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky^d03436)

(Uytterhoeven et al., 2011)

lethal - all die before end of pupal stage (with sky^f02146)

(Uytterhoeven et al., 2011)

lethal - all die during embryonic stage | recessive

(Uytterhoeven et al., 2011)

some die during embryonic stage | recessive

(Uytterhoeven et al., 2011)

some die during first instar larval stage (with Df(2L)Exel7080)

(Uytterhoeven et al., 2011)

some die during first instar larval stage (with sky^e01084)

(Uytterhoeven et al., 2011)

some die during first instar larval stage (with sky^f06707)

(Uytterhoeven et al., 2011)

some die during pharate adult stage (with sky^f01467)

(Uytterhoeven et al., 2011)

some die during pharate adult stage (with sky^f07070)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky²)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky^c00555)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky^d03436)

(Uytterhoeven et al., 2011)

some die during pupal stage (with sky^f02146)

(Uytterhoeven et al., 2011)

Phenotype Manifest In

embryonic/larval neuromuscular junction (with sky²)

(Uytterhoeven et al., 2011)

embryonic/larval neuromuscular junction (with sky^d03436)

(Uytterhoeven et al., 2011)

Detailed Description

Statement

Reference

The amplitude of the miniature excitatory junctional current (mEJCs) is similar to that of controls at both unstimulated and stimulated 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 third instar larvae.

(Uytterhoeven et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

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)

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 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

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 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)

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

(Uytterhoeven et al., 2011)

sky¹/Df(2L)Exel7080 is rescued by sky^UAS.cUa/Scer\GAL4^nSyb.PS

(Uytterhoeven et al., 2011)

sky¹/sky² is rescued by sky^+tUa

(Uytterhoeven et al., 2011)