FlyBase Allele Report: Dmel\cac[RQ,SL.UAS.EGFP]

General Information

Symbol

Dmel\cac^{RQ,SL.UAS.EGFP}

Species

D. melanogaster

Name

FlyBase ID

FBal0344042

Feature type

allele

Associated gene

Dmel\cac

Associated Insertion(s)

Carried in Construct

P{UAS-cac.RQ.SL.EGFP}

Key Links

Transgenic product class

missense_variant

(Brusich et al., 2018)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Brusich et al., 2018)

Mutagen

in vitro construct

(Brusich et al., 2018)

Progenitor genotype

Carried in construct

P{UAS-cac.RQ.SL.EGFP}

Cytology

Description

UASt regulates expression of EGFP-tagged cac bearing an arginine 135 to glutamine substitution and a serine 161 to leucine substitution corresponding to R192Q and S218L, respectively, in mammalian CACNA1A.

(Brusich et al., 2018)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

cac

Tagged with

EGFP

green fluorescent protein

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 familial hemiplegic migraine 1

CEA

(Brusich et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of familial hemiplegic migraine 1

is ameliorated by Itpr^ug3

(Brusich et al., 2018)

is ameliorated by Plc21C^GD11359

(Brusich et al., 2018)

is ameliorated by RyR^E4340K

(Brusich et al., 2018)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | larval stage, with Scer\GAL4^elav-C155

(Brusich et al., 2018)

partially lethal - majority die, with Scer\GAL4^elav-C155

(Brusich et al., 2018)

short lived, with Scer\GAL4^elav-C155

(Brusich et al., 2018)

uncoordinated | larval stage, with Scer\GAL4^elav-C155

(Brusich et al., 2018)

Phenotype Manifest In

embryonic/larval anterior spiracle | third instar larval stage, with Scer\GAL4^elav-C155

(Brusich et al., 2018)

embryonic/larval neuromuscular junction | larval stage, with Scer\GAL4^elav-C155

(Brusich et al., 2018)

Detailed Description

Statement

Reference

Early third instar larvae expressing cac^{RQ,SL.UAS.EGFP} under the control of Scer\GAL4^elav-C155 develop protruding, anterior spiracles prematurely, which normally only develop at wandering third instar stage and pupation.

In CNS-removed larvae, NMJ neurotransmission shows significant increases in mEPSP frequency, amplitude and rise time, and a significant increase in EPSP amplitude, but not quantal content, as compared to controls; there are rare gigantic spontaneous events, which are never observed in controls. Upon 30 presynaptic pulses, EPSP profiles show extra discharges but no shoulders; if expression is induced only 24h or 48h prior to third instar larval stage (by Gal80[ts] and temperature shift to 29[o]C) there is progressive spontaneous hyper-excitability.

In intact CNS larvae, NMJ neurotransmission show a high degree of spontaneous activity compared to controls, marked by rapid, continuous large pulses.

(Brusich et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by Plc21C^GD11359, Scer\GAL4^elav-C155

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by Galphaq[+]/Gαq²⁸

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by Gαq^221c/Galphaq[+]

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by Df(2L)BSC4/+

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by Plc21C[+]/Plc21C^A

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by Plc21C^MI01911/Plc21C[+]

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, enhanceable | female limited by RyR¹⁶/RyR[+]

(Brusich et al., 2018)

NOT Enhanced by

Statement

Reference

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

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-enhanceable by RyR[+]/RyR^R4305C

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-enhanceable by RyR[+]/RyR^k04913

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-enhanceable by RyR^Q3878X/RyR[+]

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-enhanceable by RyR^Y4452X/RyR[+]

(Brusich et al., 2018)

Suppressed by

Statement

Reference

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has abnormal neurophysiology | larval stage phenotype, suppressible by Plc21C^GD11359, Scer\GAL4^elav-C155

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has abnormal neurophysiology | larval stage phenotype, suppressible | partially by Itpr^ug3/Itp-r83A[+]

(Brusich et al., 2018)

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

(Brusich et al., 2018)

NOT suppressed by

Statement

Reference

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

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-suppressible by RyR[+]/RyR^R4305C

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-suppressible by RyR[+]/RyR^k04913

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-suppressible by RyR^Q3878X/RyR[+]

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has partially lethal - majority die phenotype, non-suppressible by RyR^Y4452X/RyR[+]

(Brusich et al., 2018)

Phenotype Manifest In

Suppressed by

Statement

Reference

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

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has embryonic/larval neuromuscular junction | larval stage phenotype, suppressible by Plc21C^GD11359, Scer\GAL4^elav-C155

(Brusich et al., 2018)

Scer\GAL4^elav-C155, cac^{RQ,SL.UAS.EGFP} has embryonic/larval neuromuscular junction | larval stage phenotype, suppressible | partially by Itpr^ug3/Itp-r83A[+]

(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 increased amplitude is suppressed by Plc21C^GD11359 co-expression or RyR^E4340K heterozygosity, and partially suppressed by Itp-r83A^ug3 heterozygosity; the gigantic spontaneous events are also diminished (Itp-r83A^ug3/+) or abrogated (RyR^E4340K/+). The NMJ hyperexcitability (i.e. EPSP extra discharges) in cac^{RQ,SL.UAS.EGFP}-expressing larvae is also suppressed by RyR^E4340K heterozygosity.

(Brusich et al., 2018)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to rescue

Scer\GAL4^elav-C155/cac^{RQ,SL.UAS.EGFP} fails to rescue cac^HC129

(Brusich et al., 2018)

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

cac^{RQ,SL.UAS.EGFP}

Name Synonyms

Secondary FlyBase IDs

References (1)

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