FlyBase Allele Report: Dmel\kcc[DHS1]

General Information

Symbol

Dmel\kcc^DHS1

Species

D. melanogaster

Name

FlyBase ID

FBal0144994

Feature type

allele

Associated gene

Dmel\kcc

Associated Insertion(s)

P{lacZ}J

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

hypomorphic allele - genetic evidence

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Hekmat-Scafe et al., 2006)

hypomorphic allele - molecular evidence

(Hekmat-Scafe et al., 2006)

Mutagen

Delta2-3 transposase

(Zhang et al., 2002)

Progenitor genotype

Associated Insertion(s)

P{lacZ}J

Cytology

Description

An insertion of 13bp (ACTATGCTACTGT) after the 7th base pair of the intron 11.

(Hekmat-Scafe et al., 2006)

Allele components

Component

Use(s)

Inserted element

P{lacZ}

enhancer trap

Encoded product / tool

lacZ

reporter enzyme

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

insertion

2R:23,913,705..23,913,706 [+]

Inserted_sequence:

ACTATGCTACTGT

Comment:

An insertion of 13 bp (ACTATGCTACTGT) occurs between the 7th and 8th base of intron 11.

(Hekmat-Scafe et al., 2006)

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 epilepsy

CEA

(Rusan et al., 2014, Hekmat-Scafe et al., 2006)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of epilepsy

is ameliorated by Rdl¹

(Hekmat-Scafe et al., 2006)

is ameliorated by Gad1^L352F

(Hekmat-Scafe et al., 2006)

is ameliorated by Hsap\SLC12A5^UAS.cHa

(Hekmat-Scafe et al., 2010)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | recessive

(Hekmat-Scafe et al., 2006)

bang sensitive

(Rusan et al., 2014, Holth et al., 2013, Zhang et al., 2002)

bang sensitive (with kcc^Ad-4)

(Hekmat-Scafe et al., 2006)

bang sensitive (with kcc^EY08304)

(Hekmat-Scafe et al., 2006)

bang sensitive (with kcc^ML1)

(Hekmat-Scafe et al., 2006)

bang sensitive (with kcc^P20-180)

(Hekmat-Scafe et al., 2006)

bang sensitive | recessive

(Hekmat-Scafe et al., 2006)

paralytic

(Rusan et al., 2014)

paralytic | recessive

(Hekmat-Scafe et al., 2010)

Phenotype Manifest In

Detailed Description

Statement

Reference

kcc^DHS1 mutant flies show seizure sensitivity as evidenced by a lowered threshold to evoked electrophysiologically recorded seizure-like activity and bang sensitive behavioral seizure-like activity and paralysis.

(Rusan et al., 2014)

Homozygous kcc^DHS1 mutants display a bang-sensitive paralytic phenotype.

(Hekmat-Scafe et al., 2010)

One day after eclosion, 38 % of kcc^DHS1 homozygous flies are bang sensitive (i.e.- they exhibit temporary paralysis in response to 10 seconds of vortexing). The penetrance of bang sensitivity in these flies decreases rapidly with age. The same phenotype is seen in kcc^DHS1/kcc^EY08304 animals, and at a lower penetrance (12-13%) in kcc^DHS1/kcc^ML1 or kcc^DHS1/kcc^P20-180 animals.

The seizure threshold of kcc^DHS1 homozygotes (the voltage of high frequency stimulation to the brain required to induce seizures) is significantly lower than wild-type.

(Hekmat-Scafe et al., 2006)

60% of homozygotes have a bang sensitive phenotype.

(Zhang et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

kcc^DHS1 has bang sensitive | recessive phenotype, enhanceable by jbug^unspecified

(Hekmat-Scafe et al., 2006)

kcc^DHS1 has bang sensitive | recessive phenotype, enhanceable by eas[+]/eas²

(Hekmat-Scafe et al., 2006)

kcc^DHS1 has bang sensitive | recessive phenotype, enhanceable by jus^iso7.8/sda[+]

(Hekmat-Scafe et al., 2006)

kcc^DHS1 has bang sensitive | recessive phenotype, enhanceable by bss[+]/para^bss1

(Hekmat-Scafe et al., 2006)

Suppressed by

Statement

Reference

kcc^DHS1 has bang sensitive phenotype, suppressible by tau^EP3203/tau^EP3203

(Holth et al., 2013)

kcc^DHS1 has bang sensitive phenotype, suppressible by tau[+]/tau^EP3203

(Holth et al., 2013)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Ctet\tetX^TNT-LC.UAS/Scer\GAL4^Mef2.247

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Rdl[+]/Rdl¹

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Rdl[+]/Rdl^MD-RR

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Scer\GAL4^c747/Rdl^{RNAi.8-10.UAS}

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Ncc69^PL00618/Ncc69[+]

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Df(3L)eyg^C1/+

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Scer\GAL4^c747/Ncc69^GD14863

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has paralytic | recessive phenotype, suppressible by Hsap\SLC12A5^UAS.cHa/Scer\GAL4^c739

(Hekmat-Scafe et al., 2010)

kcc^DHS1 has bang sensitive | recessive phenotype, suppressible by Rdl[+]/Rdl¹

(Hekmat-Scafe et al., 2006)

NOT suppressed by

Statement

Reference

kcc^DHS1 has paralytic | recessive phenotype, non-suppressible by Ctet\tetX^TNT-LC.UAS/Scer\GAL4^GH146

(Hekmat-Scafe et al., 2010)

Enhancer of

Statement

Reference

kcc^DHS1/E(sda)J[+] is an enhancer of bang sensitive phenotype of jus^iso7.8

(Zhang et al., 2002)

Suppressor of

Statement

Reference

kcc^DHS1/kcc[+] is a suppressor of abnormal locomotor rhythm | adult stage phenotype of Ncc69^r2

(Schellinger et al., 2022)

Other

Statement

Reference

jus^iso7.8/sda[+], kcc^DHS1 has bang sensitive | dominant phenotype

(Hekmat-Scafe et al., 2006)

kcc^DHS1, bss[+]/para^bss1 has bang sensitive | dominant phenotype

(Hekmat-Scafe et al., 2006)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

tau^EP3203/tau^EP3203 or tau^EP3203/+ significantly partially suppresses bang-sensitive behavior in kcc^DHS1/kcc^DHS1 flies.

(Holth et al., 2013)

The bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants is significantly suppressed by Rdl¹/+ or Rdl^MD-RR/+.

The bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants is suppressed to great extent by Scer\GAL4^c747-driven Rdl^{dsRNA.8-10.Scer\UAS} expression.

The bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants is only modestly suppressed by Ncc69^PL00618/+ or Df(3L)eyg^C1/+.

The bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants is markedly suppressed by the expression of Ncc69^GD14863 via Scer\GAL4^c747.

(Hekmat-Scafe et al., 2010)

The penetrance of the bang sensitive phenotype due to kcc^DHS1/kcc^DHS1 is enhanced by jbug^unspecified.

Unlike either heterozygote alone, a bang sensitive phenotype is seen in kcc^DHS1/+; sda^iso7.8/+ adults (penetrance 51%). The penetrance of this phenotype rises to 82% in kcc^DHS1/kcc^DHS1; sda^iso7.8/+ adults. I nearly identical pattern of enhancement is seen with bss¹ : 48% of kcc^DHS1/+; bss¹/+ adults are bang sensitive, rising to 77% in kcc^DHS1/kcc^DHS1/; bss¹/+ adults. No bang sensitivity is seen in kcc^DHS1/+; eas²/+ transheterozygotes, but 65% of kcc^DHS1/kcc^DHS1 ; eas²/+ adults are bang sensitive.

The penetrance of the bang sensitive phenotype seen in kcc^DHS1 homozygous adults is reduced to 1% by Rdl¹/+ and to 3% by Gad1^L352F/+.

(Hekmat-Scafe et al., 2006)

Xenogenetic Interactions

Statement

Reference

Expression of two copies of Hsap\SLC12A5^UAS.cHa driven by two copies of Scer\GAL4^c739 results in an almost complete rescue of the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants. Electrophysiology shows that Hsap\SLC12A5^UAS.cHa expression raises the seizure threshold of kcc^DHS1 mutant flies.

Blocking synaptic transmission from mushroom body neurons by Scer\GAL4^Mef2.247-directed expression of Ctet\tetX^TNT-LC.UAS dramatically reduces the bang sensitivity of kcc^DHS1 mutant flies.

Blocking synaptic transmission by Ctet\tetX^TNT-LC.UAS expression in antennal neurons projecting to the mushroom body (targeted by Scer\GAL4^GH146) produces no significant difference in the bang sensitivity of kcc^DHS1 mutant flies.

(Hekmat-Scafe et al., 2010)

Complementation and Rescue Data

Partially rescued by

kcc^DHS1 is partially rescued by kcc^UAS.cHb/Scer\GAL4^elav.PLu

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^insc-Mz1407/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^ey-OK107/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^Alp4-c232/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^104Y/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by kcc^UAS.cHb/Scer\GAL4^GH146

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL80^Mef2.mb247/kcc^UAS.cHb/Scer\GAL4^elav.PLu

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^Mef2.247/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^c747/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by kcc^UAS.cHb/Scer\GAL4^c739

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^c305a/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^Tab2-201Y/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^Rdl.PS/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^Gad1.3.098/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by kcc^UAS.cHb/Scer\GAL4^ChAT.7.4

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by kcc^UAS.cHd/Scer\GAL4^repo.PU

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by kcc^UAS.cHd/Scer\GAL4^elav.PLu

(Hekmat-Scafe et al., 2010)

kcc^DHS1 is partially rescued by Scer\GAL4^insc-Mz1407/kcc^UAS.cHd

(Hekmat-Scafe et al., 2010)

Not rescued by

kcc^DHS1 is not rescued by Scer\GAL4^repo.PU/kcc^UAS.cHb

(Hekmat-Scafe et al., 2010)

Comments

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^repo.PU produces no apparent change in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^elav.PLu results in a substantial reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4¹⁴⁰⁷ results in a substantial reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHd driven by Scer\GAL4^repo.PU produces a slight reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHd driven by Scer\GAL4^elav.PLu results in a modest reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHd driven by Scer\GAL4¹⁴⁰⁷ results in a modest reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^ey-OK107 results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^Aph-4-c232 results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^104Y results only in a modest reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^GH146 results in a substantial reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Co-expression of Scer\GAL80^Mef2.PT with Scer\GAL4^elav.PLu-driven kcc^Scer\UAS.cHb results in a significantly compromise in the rescuing ability of kcc^Scer\UAS.cHb. Scer\GAL80^Mef2.PT co-expression significantly compromises the ability of Scer\GAL4^elav.PLu-driven kcc^Scer\UAS.cHb to rescue the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^Mef2.247 results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^c747 results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^c739 results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^c305a results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^Tab2-201Y results in a marked reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^Rdl.PS results in a substantial reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^Gad1.3.098 results in a significant reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

Expression of kcc^Scer\UAS.cHb driven by Scer\GAL4^Cha.7.4 results only in a modest reduction in the bang-sensitive paralytic phenotype of homozygous kcc^DHS1 mutants.

(Hekmat-Scafe et al., 2010)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Selected as: a mutation that dominantly enhances the sda^iso7.8/+ bang sensitive phenotype.

(Zhang et al., 2002)

Comments

Splicing is unaffected by this mutation, but transcript levels are significantly reduced. Protein levels are low immediately after birth, but recover significantly with age.

(Hekmat-Scafe et al., 2006)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

E(sda)J^J

Line J

(Zhang et al., 2002)

kcc^DHS1

(Schellinger et al., 2022, Rusan et al., 2014, Holth et al., 2013, Hekmat-Scafe et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (6)

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