FB2024_03 , released June 25, 2024
Allele: Dmel\jusiso7.8
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General Information
Symbol
Dmel\jusiso7.8
Species
D. melanogaster
Name
FlyBase ID
FBal0060899
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
sdaiso7.8, Slamdanceiso7.8
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

2bp insertion in exon III between nucleotides 671 and 672 in the 5' untranslated region.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
model of  epilepsy
is ameliorated by shi1
is ameliorated by shi2
is exacerbated by SLO2CRISPR
is exacerbated by SLO2DN.UAS
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

jusiso7.8/jusf04904 and jusiso7.8/Df(3R)BSC501 transheterozygotes show an abnormal and fully penetrant paralysis phenotype upon exposure to 14[o]C or 10[o]C temperatures, which is associated with a significant increase in recovery time from paralysis upon shift to room temperature, as compared to jusiso7.8 heterozygous and wild-type controls. jusiso7.8 homozygotes also show an abnormal and nearly fully penetrant paralysis phenotype upon exposure to 10[o]C, but not 14[o]C, temperatures, which is also associated with a significant increase in recovery time from paralysis upon shift to room temperature, as compared to jusiso7.8 heterozygous and wild-type controls.

jusiso7.8 mutants suffer paralysis upon exposure to 10s of strobe light (10-50Hz), whose penetrance is variable dependent on the genetic background, and suffer seizures upon exposure to refrigerated food.

jusiso7.8 as well as jusiso7.8/jusf04904, jusiso7.8/Df(3R)BSC501 and jusiso7.8/Df(3R)BSC874 flies are bang sensitive with increasing recovery time.

High frequency electrical stimulation of jusiso7.8 mutant flies induces primary seizure occuring immediately after the stimulus followed by a secondary 'recovery' seizure around 30 sec later - this is significantly shorter than in the jusf04904 mutants where the average interval between seizures is about 70 sec, the seizure stimulus threshold however is comparable between the mutants.

sdaiso7.8/sdaiso7.8 flies are bang sensitive and have a low seizure threshold in response to high frequency stimulation (similar at room temperature or after brief heat shock).

sdaiso7.8/sdaiso7.8 mutants are bang sensitive, and do not exhibit synaptic transmission defects upon stimulation of the GF circuit.

sdaiso7.8/Df(3R)ED6235 mutant testicular niches display decreased hub cell numbers in L2, L3 and adults (but not L1), but no evidence of hub cell death or transdifferentiation; these mutants also show significantly decreased germline stem cell numbers in L2, L3 and adults (but not L1), and decreased cyst stem cell numbers in adults (but not in L3 stage).

sdaiso7.8/Df(3R)ED6235 mutant male germline stem cells display increased mitotic activity (stage unspecified), a significant increase in misoriented centrosomes (adult), a significant decrease in disintegrating fusomes (stage unspecified), and a decrease in the number of germline stem cells with multiple ring canals (stage unspecified) as compared to wild type.

sdaiso7.8/+ mutant testicular niches display decreased numbers of hub cells, germline stem cells and cyst stem cells as compared with controls. (stage unspecified)

There is a drastic increase in DLM firing frequency in sdaiso7.8 mutants following electroconvulsive seizures (ECS). The temporal characteristics of the ECS-induced wing buzzing shows a gross discrepancy with the DLM firing pattern. Unlike in wild-type, the wing beat frequency in these mutants does not appear to be temporally coupled with the DLM firing episode. Instead, an abrupt termination of wing beats occurs during DLM firing, followed by quiescence prior to a second bout of wing beats when DLM firing is terminated.

Injection of 25mM valproate saline solution greatly increases the seizure threshold of sdaiso7.8 mutants (i.e. suppresses the seizure phenotype), by approximately 7 times (to above wild-type levels without 25mM valproate injection).

sdaiso7.8 larvae exhibit prolonged seizures after electroshock.

sdaiso7.8 adult flies exhibit a significantly longer mean recovery time after electroshock compared to wild-type.

Voltage-clamp recordings of spontaneous rhythmic currents in sdaiso7.8 mutant third instar larvae motoneurons show a significant increase in both amplitude and duration. Mini synaptic currents do not show a significant difference in amplitude. The frequency of spontaneous rhythmic currents in sdaiso7.8 mutants is significantly reduced, compared to wild-type.

sdaiso7.8 mutant larvae exhibit significantly slower crawling than their wild-type counterparts, reflecting the reduced frequency of motor excitation.

Current-clamp recordings show that the depolarizations observed in sdaiso7.8 mutant aCC/RP2 motoneurons are slightly larger in amplitude and considerably longer in duration than in wild-type motoneurons and result in increased action potential firing.

aCC/RP2 motoneurons in sdaiso7.8 mutants exhibit altered membrane conductances, such that they have an intrinsically reduced membrane excitability.

Feeding sdaiso7.8 mutant larvae with phenytoin ameliorates seizure-like behavior in these larvae. Similar marked reductions are seen in synaptic current duration and spontaneous rhythmic current amplitude, whereas no significant changes are observed in frequency.

Feeding gravid sdaiso7.8 females with phenytoin results in their offspring exhibiting a complete rescue of mean recovery time from electroshock, relative to controls. The phenytoin is sufficient to suppress synaptic excitation of aCC/RP2 motoneurons.

Mean recovery time from bang sensitive paralysis following a mechanical shock is approximately 38 seconds in mutant flies.

Mutant flies have a reduced seizure threshold (the minimum voltage required to induce seizure activity in the dorsal longitudinal muscles after a high-frequency stimulus) compared to controls.

Homozygous flies show 100% bang sensitivity.

Mutants are bang-sensitive, with a recovery period of 37 +/- 5 seconds and a refractory period of 430 +/- 25 seconds.

Mutant flies show a reduced seizure threshold (of 8.3 +/- 0.4 V) compared to wild type in response to high-frequency electrical stimulation.

sdaiso7.8/+ mutants show a lower seizure threshold in the giant fibre pathway than wild type (30.6 +/- 4.5V in heterozygous females compared to 44.5 +/- 4.4V in wild-type females).

Bang-sensitive mutant. Flies usually show abnormal spontaneous activity ("seizures") in the dorsal longitudinal muscle (DLM) lasting approximately 0.5-3 seconds after the delivery of an electrical buzz (50-400 msec) to the brain. Stimulation of the giant fibre (GF) usually fails to evoke DLM potentials following the buzz. This failure lasts for 88 +/- 37 seconds. There is a close correlation between the seizure and failure phenotypes; if a seizure occurs, a failure also occurs in greater than 95% of cases, while failures without seizures occurred in approximately 10% of cases. GF evoked responses by the DLM are abnormal during recovery from the buzz. After recovery, there is a refactory period during which a buzz is less effective at inducing seizures and failures.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference

jusiso7.8 has bang sensitive | adult stage | heat sensitive phenotype, enhanceable by SLO2CRISPR

jusiso7.8 has bang sensitive | adult stage | heat sensitive phenotype, enhanceable by SLO2DN.UAS/Scer\GAL4ChAT.7.4

jusiso7.8 has bang sensitive | dominant phenotype, enhanceable by cpo[+]/cpoEG1

jusiso7.8 has bang sensitive | dominant phenotype, enhanceable by cpo[+]/cpo1

jusiso7.8 has bang sensitive | dominant phenotype, enhanceable by cpo[+]/cpol2

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)B[+]/E(sda)BB

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)C[+]/E(sda)CC

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)O[+]/E(sda)OO

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)AA/E(sda)A[+]

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)D[+]/E(sda)DD

jusiso7.8 has bang sensitive phenotype, enhanceable by kccDHS1/E(sda)J[+]

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)FF/E(sda)F[+]

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)G[+]/E(sda)GG

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)HH/E(sda)H[+]

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)I[+]/E(sda)II

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)L[+]/E(sda)LL

jusiso7.8 has bang sensitive phenotype, enhanceable by E(sda)M[+]/E(sda)MM

jusiso7.8 has bang sensitive phenotype, enhanceable by cpo[+]/cpoEG1

Suppressed by
Statement
Reference

jusiso7.8 has bang sensitive phenotype, suppressible by cacTS2

jusiso7.8 has bang sensitive phenotype, suppressible by shi1/shi1

jusiso7.8 has bang sensitive phenotype, suppressible by shi2/shi2

jusiso7.8 has bang sensitive phenotype, suppressible by paraJS1/para[+]

jusiso7.8 has bang sensitive | recessive phenotype, suppressible by Top1JS

NOT suppressed by
Enhancer of
Statement
Reference

jusiso7.8/sda[+] is an enhancer of bang sensitive | recessive phenotype of kccDHS1

Other
Phenotype Manifest In
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
Other
Additional Comments
Genetic Interactions
Statement
Reference

SLO2CRISPR, jusiso7.8 and Scer\GAL4ChAT.7.4>SLO2DN.UAS, jusiso7.8 double mutants exhibit spontaneous seizures.

cacTS2/Y largely suppresses bang sensitivity (reduces behavioral paralysis) in sdaiso7.8/sdaiso7.8 flies at room temperature; this suppression is increased (total suppression) after brief heat shock. After brief heat shock, cacTS2/Y suppresses the low seizure threshold in sdaiso7.8/sdaiso7.8 flies, almost restoring it to wild type levels.

shi1/shi1 or shi2/shi2 partially rescues the bang sensitive phenotype of sdaiso7.8/sdaiso7.8 mutants both at 23[o]C and when incubated at 26[o]C or 27[o]C before testing.

shi1/shi1, sdaiso7.8/sdaiso7.8 double mutants exhibit synaptic transmission defects upon stimulation of the GF circuit, showing a failure to respond to a proportion of 1 Hz stimulation pulses.

CadNunspecified/+, shgunspecified/+; sdaiso7.8/+ mutants display a more severe decrease in numbers of hub cells, germline stem cells and cyst stem cells in the testicular niche as compared with sdaiso7.8/+ mutants.

Expression of either shgScer\UAS.cSa or CadNScer\UAS.cIa under the control of either Scer\GAL4upd1.PU or Scer\GAL4tj.PU fully rescues the decreased cell numbers of hub cells and cyst stem cells, and partially rescues the decreased number of germline stem cells, in the adult testicular niche of sdaiso7.8/Df(3R)ED6235 mutants.

Expression of shgScer\UAS.cSa under the control of Scer\GAL4upd1.PU fails to rescue the decrease in germline stem cells with disintegrating fusomes seen in sdaiso7.8/Df(3R)ED6235 mutants.

Expression of either shgScer\UAS.cSa or CadNScer\UAS.cIa under the control of Scer\GAL4nos.UTR.T:Hsim\VP16 fails to rescue the germline stem cell, cyst stem cell, and hub cell number phenotypes in testicular niches of sdaiso7.8/Df(3R)ED6235 mutants.

Expression of upd1Scer\UAS.cZa under the control of Scer\GAL4upd1.PU fails to rescue the germline stem cell, cyst stem cell, and hub cell number phenotypes in testicular niches of flies expressing sdaE-A.Scer\UAS.P\T.T:Ivir\HA1 under the control of Scer\GAL4upd1.PU in sdaiso7.8/Df(3R)ED6235 mutants, and has no significant effect on cell numbers in testicular niches of flies expressing sdaScer\UAS.P\T.T:Ivir\HA1 under the control of Scer\GAL4upd1.PU in sdaiso7.8/Df(3R)ED6235 mutants.

sdaiso7.8/Df(3R)ED6235 mutants fail to undergo spermatogonial dedifferentiation and germline stem cell number recovery in the testicular niche after expression of bamhs.PO via heat shock treatment.

Expression of sdaScer\UAS.P\T.T:Ivir\HA1, but not sdaΔCAT.Scer\UAS.P\T.T:Ivir\HA1 or sdaE-A.Scer\UAS.P\T.T:Ivir\HA1, under the control of Scer\GAL4upd1.PU, restores the ability of sdaiso7.8/Df(3R)ED6235 mutants to undergo spermatogonial dedifferentiation and recover germline stem cell number in the testicular niche after expression of bamhs.PO via heat shock treatment.

paraJS1/+ increases the minimum voltage of high frequency stimulation of the brain required to induce seizure (the seizure threshold) of sdaiso7.8 homozygotes to almost wild-type levels.

The bang sensitive phenotype and decreased seizure threshold of sdaiso7.8 homozygotes is partially suppressed by Top1JS/Y or Top1JS/Top1112, but not by Top1JS/Top1G0229, Top1JS/Top1G0201 or Top1JS/Top1G0134.

Unlike either heterozygote alone, a bang sensitive phenotype is seen in kccDHS1/+; sdaiso7.8/+ adults (penetrance 51%). The penetrance of this phenotype rises to 82% in kccDHS1/kccDHS1; sdaiso7.8/+ adults.

cpo1 acts as a dominant enhancer of seizure susceptibility; the cpo1/+ sdaiso7.8/+ double heterozygote has a seizure threshold of 11.8 +/- 1.6 V. cpoEG1 acts as a dominant enhancer of seizure susceptibility; the cpoEG1/+ sdaiso7.8/+ double heterozygote has a seizure threshold of 14.4 +/- 3.1 V.

The reduced seizure threshold (the minimum voltage required to induce seizure activity in the dorsal longitudinal muscles after a high-frequency stimulus) of sdaiso7.8 flies is restored to wild-type if the flies are also mutant for mei-P2616.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Comments

The bang-sensitive phenotype of jusiso7.8 mutant flies is fully rescued by expression of jusScer\UAS.cHa under the control of Scer\GAL4elav-C155 in the mutant background and partially so when expressed under the Scer\GAL4GMR55G02 driver.

The median recovery time after mechanical shock-induced paralysis of jusiso7.8/jusf04904 flies is significantly shortened by combination with a single copy of jusT:Scer\TY1,T:Avic\GFP-SF,T:SV5\V5,T:Zzzz\BLRP,T:Zzzz\FLAG.

The bang-sensitivity phenotype of jusiso7.8 mutants cannot be complemented by combination with any of the following: Df(3R)ED6310, Df(3R)BSC874, Df(3R)BSC501 or jusf04904, is largely complemented by combination with jusMI11213 (only 7.5% of the transheterozygous animals are bang-sensitive) and fully complemented by any of the following: Df(3R)ED6255, jusMB12140, CG11898e03595, α-Man-Ibf07221, yemEY23024, CG14516HP31652, Atg14EY14568, eIF2Df04182, CG11897KG04612, Ctl2EY00989.

Expression of sdaScer\UAS.P\T.T:Ivir\HA1 under the control of Scer\GAL4upd1.PU fully rescues the testicular niche phenotypes of sdaiso7.8/Df(3R)ED6235 mutants.

Expression of sdaScer\UAS.P\T.T:Ivir\HA1 under the control of Scer\GAL4C587 almost fully rescues the decreased cell numbers in the testicular niche of sdaiso7.8/Df(3R)ED6235 mutants.

Expression of sdaScer\UAS.P\T.T:Ivir\HA1 under the control of Scer\GAL4nos.UTR.T:Hsim\VP16 partially rescues the germline stem cell number decrease of sdaiso7.8/Df(3R)ED6235 mutants.

Expression of sdaΔCAT.Scer\UAS.P\T.T:Ivir\HA1 or sdaE-A.Scer\UAS.P\T.T:Ivir\HA1 under the control of Scer\GAL4upd1.PU fails to rescue the testicular niche phenotypes of sdaiso7.8/Df(3R)ED6235 mutants.

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External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (8)
References (24)