FlyBase Allele Report: Dmel\cac[TS2]

General Information

Symbol

Dmel\cac^TS2

Species

D. melanogaster

Name

FlyBase ID

FBal0095278

Feature type

allele

Associated gene

Dmel\cac

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

(Dellinger et al., 2000)

Progenitor genotype

Cytology

Description

Nucleotide substitution: C?T. Amino acid replacement: P1388S.

(Chan et al., 2002)

Nucleotide substitution: C4714T. Amino acid replacement: P1385S.

(Kawasaki et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:11,949,202..11,949,202 [-]

Nucleotide change:

C11949202T

Reported nucleotide change:

C4714T

Amino acid change:

Reported amino acid change:

P1388S

(Chan et al., 2002, Kawasaki et al., 2002, Peixoto et al., 1997)

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 epilepsy

modeled by para^bss1

(Saras and Tanouye, 2016)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal behavior | recessive | heat sensitive

(Dellinger et al., 2000)

abnormal courtship behavior

(Chan et al., 2002)

abnormal locomotor behavior | heat sensitive

(Brooks et al., 2003)

abnormal neuroanatomy

(Dason et al., 2009)

abnormal neurophysiology | adult stage | temperature conditional

(Saras and Tanouye, 2016)

abnormal neurophysiology | heat sensitive

(Lutas et al., 2012, Kuromi et al., 2004, Brooks et al., 2003, Chan et al., 2002, Kawasaki et al., 2000, Dellinger et al., 1999)

abnormal neurophysiology | temperature conditional

(Dason et al., 2009)

abnormal song | heat sensitive

(Chan et al., 2002)

bang sensitive

(Chan et al., 2002)

decreased rate of movement | heat sensitive

(Chan et al., 2002)

paralytic | adult stage | temperature conditional

(Saras and Tanouye, 2016)

paralytic | heat sensitive

(Lutas et al., 2012, Kawasaki et al., 2011, Brooks et al., 2003, Dellinger et al., 1999)

paralytic | heat sensitive (with cac^E(TS2)1)

(Brooks et al., 2003)

paralytic | heat sensitive (with cac^su(TS2)1)

(Brooks et al., 2003)

paralytic | heat sensitive (with cac^su(TS2)2)

(Brooks et al., 2003)

paralytic | recessive | heat sensitive

(Dellinger et al., 2000)

uncoordinated | recessive | heat sensitive

(Dellinger et al., 2000)

Phenotype Manifest In

dorsal medial muscle & synapse (with cac^L13)

(Kawasaki et al., 2000)

dorsal medial muscle & synapse (with Df(1)KA10)

(Kawasaki et al., 2000)

dorsal medial muscle & synapse | conditional ts

(Kawasaki et al., 2000)

intracoxal lateral levator muscle & synapse | conditional ts

(Kawasaki et al., 2000)

neuromuscular junction | heat sensitive

(Brooks et al., 2003)

NMJ bouton

(Dason et al., 2009)

Detailed Description

Statement

Reference

At room temperature, cac^TS2 mutants have normal feeding, grooming, mating, activity levels, giant fiber electrophysiology and are not bang sensitive.

At room temperature, cac^TS2 flies are seizure-resistant, with a higher seizure threshold (in response to high frequency stimulation) than wild type; at higher restrictive temperatures (38C), flies become seizure-sensitive (display spontaneous seizure-like dorsal longitudinal muscle activity) and display behavioural paralysis.

(Saras and Tanouye, 2016)

cac^TS2 flies are paralysed rapidly at 38[o]C but exhibit only mild motor defects at 36[o]C.

Synaptic transmission is normal at the permissive temperature of 20[o]C, but a marked reduction in the excitatory postsynaptic current amplitude is seen at 36[o]C.

(Lutas et al., 2012)

cac^TS2 mutants are paralyzed at 38[o]c but resistant to paralysis at 36[o]C.

(Kawasaki et al., 2011)

At 22[o]C, EJP amplitudes of cac^TS2 are significantly reduced compared with controls.

cac^TS2 larvae grown at 25[o]C exhibit reduced nerve-terminal morphology. There is no change at 22[o]C.

At 37[o]C, EJP amplitudes in cac^TS2 mutants are significantly reduced compared to controls.

(Dason et al., 2009)

Heterozygous, homozygous and cac^S/cac^TS2 P1 stage pupae have a significantly increased heart rate and an increased strength of heart beat rhythmicity compared to controls.

(Ray and Dowse, 2005)

In mutants exocytosis is decreased at non-permissive temperatures in presynaptic boutons (apparently not caused by a decrease in Ca²⁺ at the nonpermissive temperature). The evoked synaptic potentials (ESPs) in cytochalasin D-treated mutant preparations is reduced either at 1Hz or 10 Hz during incubation at 36^oC for 20 minutes compared with that at 22^oC, this is characteristic of a inhibition of exocytosis, but not endocytosis. No effect is seen on endocytosis at either permissive or non-permissive temperatures.

(Kuromi et al., 2004)

At 37^oC, cac^TS2 flies have severe motor defects. At 36^oC, the flies are not paralysed. At 38^oC, cac^TS2 flies (reared at 20^oC) paralyse, with a time for 50% paralysis of 0.28 +/- 0.04 minutes. cac^TS2 flies reared at 23^oC show paralysis at 38^oC, with a time for 50% paralysis of 0.33 +/- 0.02 minutes. cac^TS2/cac^E(TS2)1 females (reared at 20^oC) paralyse at 36^oC, with a time for 50% paralysis of 0.31 +/- 0.03 minutes. At 38^oC, cac^TS2/cac^su(TS2)1 flies (reared at 20^oC) show a time for 50% paralysis of 0.43 +/- 0.06 minutes. cac^TS2/cac^su(TS2)2 flies reared at 23^oC show paralysis at 38^oC, with a time for 50% paralysis of 0.39 +/- 0.02 minutes. cac^TS2 have a wild-type synaptic current at the dorsal longitudinal flight muscle neuromuscular synapse at 20^oC, and a marked reduction in excitatory postsynaptic current amplitude at 36^oC.

(Brooks et al., 2003)

Intact cac^TS2 males have a slightly lower than normal mating success. Mating success of cac^TS2 males which have had their wings removed (compared to control flies with their wings removed) is more markedly impaired. Mutant males show higher than normal numbers of intrapulse cycles (CPP) among their song sounds. This mutant phenotype increases with increasing temperature. The pulse amplitudes are also heat sensitive, showing a steady increase as the temperature is raised. Intrapulse frequency tends to be lower than normal in mutant males. The interpulse interval (IPI) is significantly different from that of wild-type males at 30^oC. Analysis of the average numbers of intrapulse cycles (CPP) per song bout of reasonable length indicates that at 30^oC (but not at 20^oC) mutant males generate song pulses containing larger than normal numbers of cycles. Mutant flies do not show defects in phototaxis. Room temperature ERG recordings from mutant flies appear normal looking with regard to the shapes of light-on transient spikes, light-coincident photoreceptor potentials, light-off transients and repolarisation times. At high temperature, repolarisation times are prolonged. Mutant males exposed to 29^oC and then tested at 25^oC are approximately 1/4 to 1/3 as active as wild-type flies. This locomotion defect is somewhat improved at 22-23^oC. Mutant flies take longer to recover from mechanical shock than normal.

(Chan et al., 2002)

Homozygotes show rapid paralysis at 38^oC. At 36^oC, flies show spinning behaviour and a lack of coordination.

(Dellinger et al., 2000)

At 20^oC, cac^TS2 homozygotes show wild-type synaptic currents at the dorsal longitudinal flight muscle (DLM) neuromuscular synapses. Exposure to higher temperatures produces a marked reduction in the amplitude of the synaptic current compared to wild type. This phenotype is reversible, showing full recovery to wild type upon return to 20^oC. The extent of the synaptic current reduction is dependent on temperature. A conditional reduction in the evoked synaptic current is also seen at the intracoxal lateral levator muscle synapse. Despite a marked reduction in the evoked synaptic current at 36^oC, cac^TS2 synapses show wild-type mEPSP amplitudes under the same conditions. Heterozygotes show wild-type synaptic currents at the DLM neuromuscular synapse at the restrictive temperature.

(Kawasaki et al., 2000)

cac^TS2 mutants show a conditional reduction in the excitatory postsynaptic current at neuromuscular synapses.

(Dellinger et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

cac^TS2 has paralytic | heat sensitive phenotype, enhanceable by P32^EC1/P32^EC1

(Lutas et al., 2012)

cac^TS2 has abnormal neurophysiology | heat sensitive phenotype, enhanceable by P32^EC1

(Lutas et al., 2012)

cac^TS2 has paralytic | heat sensitive phenotype, enhanceable by Dab^EC1

(Kawasaki et al., 2011)

cac^TS2 has paralytic | heat sensitive phenotype, enhanceable by E(TS2)2²

(Brooks et al., 2003)

cac^TS2 has paralytic | recessive | heat sensitive phenotype, enhanceable by comt¹

(Dellinger et al., 2000)

Suppressed by

Statement

Reference

cac^TS2 has abnormal neurophysiology | adult stage | temperature conditional phenotype, suppressible by para^bss1/para^bss1

(Saras and Tanouye, 2016)

cac^TS2 has paralytic | adult stage | temperature conditional phenotype, suppressible by para^bss1/para^bss1

(Saras and Tanouye, 2016)

NOT suppressed by

Statement

Reference

cac^TS2 has abnormal neurophysiology | temperature conditional phenotype, non-suppressible by Scer\GAL4^Toll-6-D42/Frq2^UAS.cRPa

(Dason et al., 2009)

cac^TS2 has abnormal neuroanatomy phenotype, non-suppressible by Scer\GAL4^Toll-6-D42/Frq2^UAS.cRPa

(Dason et al., 2009)

Enhancer of

Statement

Reference

cac^TS2 is an enhancer of paralytic | recessive | heat sensitive phenotype of comt¹

(Dellinger et al., 2000)

NOT Enhancer of

Statement

Reference

cac[+]/cac^TS2, Scer\GAL4^Toll-6-D42 is a non-enhancer of abnormal neuroanatomy phenotype of Frq2^UAS.cRPa, Scer\GAL4^Toll-6-D42

(Dason et al., 2009)

Suppressor of

Statement

Reference

cac^TS2 is a suppressor of bang sensitive phenotype of eas²

(Saras and Tanouye, 2016)

cac^TS2 is a suppressor of abnormal neurophysiology | adult stage phenotype of eas²

(Saras and Tanouye, 2016)

cac^TS2 is a suppressor of bang sensitive phenotype of jus^iso7.8

(Saras and Tanouye, 2016)

cac^TS2 is a suppressor of abnormal neurophysiology | adult stage phenotype of jus^iso7.8

(Saras and Tanouye, 2016)

cac^TS2 is a suppressor of bang sensitive phenotype of para^bss1

(Saras and Tanouye, 2016)

cac^TS2 is a suppressor of abnormal neurophysiology | adult stage phenotype of para^bss1

(Saras and Tanouye, 2016)

cac[+]/cac^TS2, Scer\GAL4^Toll-6-D42 is a suppressor of abnormal neurophysiology phenotype of Frq2^UAS.cRPa, Scer\GAL4^Toll-6-D42

(Dason et al., 2009)

NOT Suppressor of

Statement

Reference

cac[+]/cac^TS2, Scer\GAL4^Toll-6-D42 is a non-suppressor of abnormal neuroanatomy phenotype of Frq2^UAS.cRPa, Scer\GAL4^Toll-6-D42

(Dason et al., 2009)

Phenotype Manifest In

NOT suppressed by

Statement

Reference

cac^TS2 has NMJ bouton phenotype, non-suppressible by Scer\GAL4^Toll-6-D42/Frq2^UAS.cRPa

(Dason et al., 2009)

Enhancer of

Statement

Reference

cac^TS2 is an enhancer of phenotype of comt^unspecified

(Dellinger et al., 1999)

Suppressor of

Statement

Reference

cac^TS2, Scer\GAL4^Toll-6-D42 is a suppressor of NMJ bouton phenotype of Frq2^UAS.cRPa, Scer\GAL4^Toll-6-D42

(Dason et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

cac^TS2 suppresses bang sensitivity (reduces behavioral paralysis) in sda^iso7.8/sda^iso7.8, eas²/eas² or para^bss1/para^bss1 flies at room temperature; this suppression is increased after brief heat shock. cac^TS2/cac^TS2 almost completely suppresses bang sensitivity (reduces behavioral paralysis) in para^bss1/+ flies at room temperature. cac^TS2/Y also speeds recovery time from paralysis and reduces refractory time in para^bss1/para^bss1 flies.

After brief heat shock, cac^TS2/Y: suppresses the low seizure threshold in sda^iso7.8/sda^iso7.8 flies, almost restoring it to wild type levels; partially suppresses the low seizure threshold in eas²/eas² flies; transiently suppresses the low seizure threshold in para^bss1/para^bss1 flies, even increasing the threshold to above wild type levels (seizure resistance) - the seizure threshold returns to para^bss1/para^bss1 levels after some minutes at room temperature.

para^bss1/para^bss1 suppresses the spontaneous seizure-like activity in the dorsal longitudinal muscle as well as behavioural paralysis seen at higher restrictive temperatures (38C) in cac^TS2/cac^TS2 flies.

(Saras and Tanouye, 2016)

Unlike cac^TS2 alone, cac^TS2 P32^EC1 double mutants exhibit rapid paralysis at 36[o]C.

P32^EC1 strongly enhances the cac^TS2 synaptic transmission phenotype.

There are no obvious changes in basic synapse morphology in cac^TS2 P32^EC1 double mutants.

(Lutas et al., 2012)

Dab^EC1 is an enhancer of cac^TS2. cac^TS2;;Dab^EC1 double mutants exhibit rapid paralysis at 36[o]C.

(Kawasaki et al., 2011)

Overexpression of Frq2^{Scer\UAS.cRPa} (under the control of Scer\GAL4^D42) does not affect the EJP amplitude found in cac^TS2 mutants at 22[o]C.

The presence of a cac^TS2 mutant background suppresses the enhanced neurotransmitter release found upon overexpression of Frq2^{Scer\UAS.cRPa} under the control of Scer\GAL4^D42 at both permissive and non-permissive temperatures.

Expression of Frq2^{Scer\UAS.cRPa} under the control of Scer\GAL4^D42 in a cac^TS2 background at 22[o]C or 37[o]C does no change the number of synaptic boutons.

(Dason et al., 2009)

E(TS2)2² enhances the cac^TS2 phenotype, resulting in paralysis at 37^oC in E(TS2)2² cac^TS2 mutants.

(Brooks et al., 2003)

cac^TS2 comt⁴ double mutant males generate song pulses whose intrapulse cycle (CPP) values are within the normal range.

(Chan et al., 2002)

At 36^oC, cac^TS2 comt¹ double mutants show faster paralysis than comt¹ single mutants at this temperature. At 38^oC, cac^TS2 comt¹ double mutants show faster rapid paralysis than in cac^TS2 single mutants at this temperature.

(Dellinger et al., 2000)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

cac^S

(Dellinger et al., 2000)

cac^L13

(Dellinger et al., 2000)

cac^L13

(Kawasaki et al., 2000)

Rescued by

cac^TS2 is rescued by Scer\GAL4^elav-C155/cac^UAS.cKa

(Kawasaki et al., 2002)

Comments

cac^L13 fails to complement the cac^TS2 electrophysiological phenotype. cac^TS2 complements the cac^S phenotype at 20^oC but fails to complement it at 36^oC.

(Kawasaki et al., 2000)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

92839

cac^TS2

Notes on Origin

Discoverer

Arose in: comt¹

(Kawasaki et al., 2002)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Dmca1A^TS2

(Rieckhof et al., 2003)

cac^TS2

(Fisher et al., 2017, Saras and Tanouye, 2016, Lutas et al., 2012, Kawasaki et al., 2011, Zou et al., 2008, Ray and Dowse, 2005)

cac^ts2

(Kasuya et al., 2019, Agrawal et al., 2017, Repnikova et al., 2010, Dason et al., 2009, Huang et al., 2006)

cacTS2

(Brooks et al., 2002)

nbA^TS2

Name Synonyms

cacophonyTS2

(Zou et al., 2008)

Secondary FlyBase IDs

References (21)

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