FlyBase Allele Report: Dmel\RyR[E4340K]

General Information

Symbol

Dmel\RyR^E4340K

Species

D. melanogaster

Name

FlyBase ID

FBal0104549

Feature type

allele

Associated gene

Dmel\RyR

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

gain of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

gain of function allele

(Gao et al., 2013)

Mutagen

ethyl methanesulfonate

(Dockendorff et al., 2000)

Progenitor genotype

Cytology

Description

Amino acid replacement: E4340K.

(Gao et al., 2013)

Coordinates for nucleotide substitution are with respect to RyR transcript variant D (NM_057646.2) and coordinates for amino acid replacements are with respect to RyR isoform D (NP_476994.1).

(Gao et al., 2013)

Nucleotide substitution: G13172A.

(Gao et al., 2013)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:8,885,491..8,885,491 [+]

Nucleotide change:

G8885491A

Reported nucleotide change:

G13172A

Amino acid change:

Reported amino acid change:

E4340K

Comment:

Reported coordinates are relative to isoform RyR-RD.

(Gao et al., 2013)

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

ameliorates familial hemiplegic migraine 1

modeled by cac^{RQ,SL.UAS.EGFP}

(Brusich et al., 2018)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | dominant | larval stage

(Gao et al., 2013)

chemical sensitive | dominant

(Gao et al., 2013)

lethal (with RyR^Δ25)

(Gao et al., 2013)

lethal - all die during embryonic stage

(Dockendorff et al., 2000)

some die during embryonic stage

(Dockendorff et al., 2000)

Phenotype Manifest In

larval RP2 motor neuron | larval stage

(Gao et al., 2013)

Detailed Description

Statement

Reference

In RyR^E4340K heterozygous larvae, NMJ neurotransmission does not show significant changes in mEPSP amplitude, as compared to controls.

(Brusich et al., 2018)

Heterozygotes show hypersensitivity to halothane compared to wild type.

RP2 neurons in heterozygous larvae respond to halothane with a significantly larger Ca[2+] flux compared to wild-type RP2 neurons. The mutant RP2 neurons respond more weakly to 5mM caffeine than control neurons.

(Gao et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhancer of

Statement

Reference

RyR^E4340K/RyR[+] is a non-enhancer of partially lethal - majority die phenotype of Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP}

(Brusich et al., 2018)

Suppressor of

Statement

Reference

RyR^E4340K/RyR[+] is a suppressor | partially of abnormal neurophysiology | larval stage phenotype of Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP}

(Brusich et al., 2018)

NOT Suppressor of

Statement

Reference

RyR^E4340K/RyR[+] is a non-suppressor of partially lethal - majority die phenotype of Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP}

(Brusich et al., 2018)

Phenotype Manifest In

Suppressor of

Statement

Reference

RyR^E4340K/RyR[+] is a suppressor | partially of embryonic/larval neuromuscular junction | larval stage phenotype of Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP}

(Brusich et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

Female larvae expressing cac^{RQ,SL.UAS.EGFP} under the control of Scer\GAL4^elav-C155 exhibit a significant increase in NMJ mEPSP amplitude and frequency; the amplitude (including gigantic spontaneous events) is suppressed by RyR^E4340K heterozygosity. The NMJ hyperexcitability (i.e. extra EPSP discharges) in cac^{RQ,SL.UAS.EGFP}-expressing larvae is also suppressed by RyR^E4340K heterozygosity.

Individuals that both express cac^UAS.EGFP under the control of Scer\GAL4^elav-C155 and are heterozygous for RyR^E4340K show almost no baseline hyperexcitability of larval NMJs (i.e extra EPSP discharges).

(Brusich et al., 2018)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

RyR^Δ25

(Gao et al., 2013)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

5505

RyR^E4340K/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

RyR^E4340K

(Mallik et al., 2026, Brusich et al., 2018)

dRyr^E4340K

(Gao et al., 2013)

l(2)44Fh¹

(Gao et al., 2013)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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