FlyBase Allele Report: Dmel\Khc[8]

General Information

Symbol

Dmel\Khc⁸

Species

D. melanogaster

Name

FlyBase ID

FBal0029880

Feature type

allele

Associated gene

Dmel\Khc

Associated Insertion(s)

Carried in Construct

Genomic Maps

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Help me choose

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Hurd and Saxton, 1996)

Mutagen

ethyl methanesulfonate

(Djagaeva et al., 2012, Saxton et al., 1991)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

point mutation

2R:16,269,635..16,269,635 [-]

Nucleotide change:

C16269635T

Reported nucleotide change:

C948T

Amino acid change:

R210term | Khc-PA

Reported amino acid change:

R210term

(Brendza, 2000.3.2, Brendza et al., 1999)

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Nature of the lesion

Statement

Reference

Amino acid replacement: R210term.

(Brendza, 2000.3.2)

Nucleotide substitution: C948T.

(Brendza, 2000.3.2)

Revision of data reported in FBrf0111813.

(Brendza, 2000.3.2)

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 spinal muscular atrophy

CEA

(Gassman et al., 2013)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Kaltenbach et al., 2007)

exacerbates Alzheimer's disease

modeled by Hsap\APP^695.T.UAS

(Gunawardena and Goldstein, 2001)

modeled by Hsap\APP^{V717F.LOND.UAS}

(Gunawardena and Goldstein, 2001)

modeled by Hsap\APP^{695-Swedish.UAS}

(Gunawardena and Goldstein, 2001)

modeled by Hsap\APP^{695SPA4CT.UAS.Tag:MYC}

(Gunawardena and Goldstein, 2001)

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

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

axon

(Hurd and Saxton, 1996)

embryonic/larval nervous system

(Gunawardena and Goldstein, 2001)

lateral transverse muscle

(Metzger et al., 2012)

neuromuscular junction

(Hurd and Saxton, 1996)

Detailed Description

Statement

Reference

Khc⁸/+ flies do not exhibit significantly increased bang sensitivity, nor any significant difference in seizure threshold or spikes per discharge in an electroconvulsive stimulation paradigm, as compared to wild type.

(Ehaideb et al., 2014)

Khc⁸ embryos have disrupted myonuclear positioning but normal muscle elongation and attachment.

(Metzger et al., 2012)

Animals expressing Khc^GD12278 under the simultaneous control of both Scer\GAL4^repo.PL and Scer\GAL4^repo show reduced viability, the severity of which is increased if the flies are also heterozygous for Khc⁸.

(Schmidt et al., 2012)

Khc⁸ neuroblast clones in mushroom bodies (generated using MARCM) results in severe but variable neuronal morphological defects: fasciculation and branching are disrupted, resulting in extra long lobes, thinner lobes or additional branches.

(Henthorn et al., 2011)

Homozygotes show an accumulation of organelles is seen in larval axons (about 200 clogs per 50μm). Heterozygotes have no phenotype.

(Gunawardena and Goldstein, 2001)

Hemizygotes show at least 50% lethality during the second larval instar stage.

(Brendza et al., 1999)

Mutation causes organelle-filled axonal swellings that exhibit abnormal accumulation of nerve terminal proteins, including syt.

(Hurd and Saxton, 1996)

Larval growth abnormalities and lack of mobility.

(Saxton et al., 1991)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Khc⁸/Df(2R)Jp6 has lethal phenotype, suppressible by Dana\Khc^RNAi-res.UAS/Scer\GAL4^da.G32

(Schmidt et al., 2012)

Enhancer of

Statement

Reference

Khc[+]/Khc⁸ is an enhancer of planar polarity defective phenotype of Scer\GAL4^Bx-MS1096, kermit^UAS.cLa

(Lin and Katanaev, 2013)

Khc⁸ is an enhancer of partially lethal - majority die | embryonic stage phenotype of BicD^D

(Navarro et al., 2004)

Khc⁸ is an enhancer of increased cell death phenotype of Hsap\APP^695.T.UAS, Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Khc⁸ is an enhancer of increased cell death phenotype of Hsap\APP^{695-Swedish.UAS}, Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Khc⁸ is an enhancer of increased cell death phenotype of Hsap\APP^{V717F.LOND.UAS}, Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Khc⁸ is an enhancer of increased cell death phenotype of Hsap\APP^{695SPA4CT.UAS.Tag:MYC}, Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Khc⁸ is an enhancer of partially lethal - majority die phenotype of Appl^UAS.cTa, Scer\GAL4^Appl.G1a

(Torroja et al., 1999)

Suppressor of

Statement

Reference

Khc[+]/Khc⁸ is a suppressor of bang sensitive phenotype of pk^sple-1

(Ehaideb et al., 2014)

Khc[+]/Khc⁸ is a suppressor of neurophysiology defective | adult stage phenotype of pk^sple-1

(Ehaideb et al., 2014)

Khc[+]/Khc⁸ is a suppressor of visible phenotype of DCTN1-p150^UAS.cLa, Scer\GAL4^GMR.PF

(Lloyd et al., 2012)

Khc⁸ is a suppressor of visible phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Kaltenbach et al., 2007)

Other

Statement

Reference

Df(3L)8ex25/+, Khc⁸ has uncoordinated | wandering third instar larval stage phenotype

(Gassman et al., 2013)

DCTN1-p150^G38S, Khc[+]/Khc⁸ has lethal phenotype

(Lloyd et al., 2012)

Phenotype Manifest In

Enhanced by

Statement

Reference

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Scer\GAL4^Appl.G1a/Hsap\APP^695.T.UAS

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Scer\GAL4^Appl.G1a/Hsap\APLP2::Hsap\APP^UAS.Tag:MYC

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Scer\GAL4^Appl.G1a/Appl^sd.UAS

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Scer\GAL4^Appl.G1a/Appl^UAS.cTa

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Hsap\APP^{695-Swedish.UAS}/Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Scer\GAL4^Appl.G1a/Hsap\APP^{V717F.LOND.UAS}

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, enhanceable by Hsap\APP^{695SPA4CT.UAS.Tag:MYC}/Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

NOT Enhanced by

Statement

Reference

Khc⁸ has embryonic/larval nervous system phenotype, non-enhanceable by Hsap\APP^{695ΔCT.UAS.Tag:MYC}/Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Khc⁸ has embryonic/larval nervous system phenotype, non-enhanceable by Appl^s.UAS/Scer\GAL4^Appl.G1a

(Gunawardena and Goldstein, 2001)

Enhancer of

Statement

Reference

Khc[+]/Khc⁸ is an enhancer of wing hair | supernumerary phenotype of Scer\GAL4^Bx-MS1096, kermit^UAS.cLa

(Lin and Katanaev, 2013)

Khc[+]/Khc⁸ is an enhancer of NMJ bouton phenotype of DCTN1-p150^G38S

(Lloyd et al., 2012)

Khc[+]/Khc⁸ is an enhancer of phenotype of DCTN1-p150^G38S/DCTN1-p150^Δ22

(Lloyd et al., 2012)

Khc[+]/Khc⁸ is an enhancer of organism | maternal effect | cleavage stage phenotype of αTub67C^kav-21g

(Gaspar and Szabad, 2009)

Khc[+]/Khc⁸ is an enhancer of dorsal appendage phenotype of DCTN2-p50^hs.PD

(Duncan and Warrior, 2002)

NOT Enhancer of

Statement

Reference

Khc⁸ is a non-enhancer of phenotype of zip^Ebr

(Halsell and Kiehart, 1998)

Suppressor of

Statement

Reference

Khc[+]/Khc⁸ is a suppressor of eye phenotype of DCTN1-p150^UAS.cLa, Scer\GAL4^GMR.PF

(Lloyd et al., 2012)

Khc⁸ is a suppressor of eye phenotype of Hsap\HTT^{128Q.1-336.UAS}, Scer\GAL4^GMR.PU

(Kaltenbach et al., 2007)

Khc[+]/Khc⁸ is a suppressor | partially of eye photoreceptor cell & nucleus phenotype of DCTN1-p150¹

(Whited et al., 2004)

Khc[+]/Khc⁸ is a suppressor | partially of eye phenotype of DCTN1-p150¹

(Whited et al., 2004)

Khc[+]/Khc⁸ is a suppressor | partially of ommatidium phenotype of DCTN1-p150¹

(Whited et al., 2004)

Khc[+]/Khc⁸ is a suppressor | partially of eye photoreceptor cell & nucleus phenotype of DCTN1-p150^Δ.UAS, Scer\GAL4^Glass38-1

(Whited et al., 2004)

Khc[+]/Khc⁸ is a suppressor | partially of larval Bolwig's organ & nucleus phenotype of DCTN1-p150^Δ.UAS, Scer\GAL4^elav.PLu

(Whited et al., 2004)

Other

Statement

Reference

Df(3L)8ex25/+, Khc⁸ has axon | wandering third instar larval stage phenotype

(Gassman et al., 2013)

Khc[+]/Khc⁸, ens^swo has lateral transverse muscle phenotype

(Metzger et al., 2012)

Apc^Q8/Apc[+], Khc⁸ has phenotype

(Henthorn et al., 2011)

Apc^X1/Apc[+], Khc⁸ has phenotype

(Henthorn et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Bsg25D^null.R/Bsg25D^null.R, Khc⁸/+ stage 16 embryo myotubes present normal nuclear positioning.

(Rosen et al., 2019)

Khc⁸/+ fully suppresses the bang sensitivity and lowered seizure threshold phenotypes of pk^sple-1/+ mutants.

(Ehaideb et al., 2014)

Khc⁸/+, Df(3L)8ex25/+ larvae exhibit uncoordinated locomotion and a characteristic tail-flipping phenotype. Axonal swellings (axonal spheroids or neuritic beads) are observed in the segmental nerves of the double heterozygotes. Pharmacological intervention using SBL-398 (and other compounds) can partially suppress motor dysfunction and the appearance of membranous aggregates in mutant segmental nerves.

(Gassman et al., 2013)

The presence of Khc⁸/+ enhances the multiple wing hair phenotype caused by expression of kermit^Scer\UAS.cLa under the control of Scer\GAL4^Bx-MS1096.

(Lin and Katanaev, 2013)

Gl^G38S/Gl^Δ22 ; Khc⁸/+ animals rarely survive to pupal stages.

Khc⁸/+ strongly suppresses the rough eye phenotype caused by expression of Gl^Scer\UAS.cLa under the control of Scer\GAL4^GMR.PF.

Khc⁸/+ enhances the swelling of the terminal boutons which is seen in Gl^G38S larvae.

(Lloyd et al., 2012)

Unlike either single heterozygote, embryos doubly heterozygous for ens^swo and Khc⁸ show defective myonuclear positioning.

(Metzger et al., 2012)

Scer\GAL4^elav.PU-driven Hsap\TFRC^{Scer\UAS.T:Avic\GFP} is mis-localized in Khc⁸/+, Apc^Q8/+ or Khc⁸/+, Apc^X1/+ animals.

(Henthorn et al., 2011)

The early cleavage defects seen in embryos derived from αTub67C^kav-21g/+ females occur in a significantly larger proportion of embryos if the females also carry one copy of Khc⁸.

(Gaspar and Szabad, 2009)

BicD^D/Khc⁸ double mutants exhibit a hatch-rate of 3%, compared to a hatch-rate of 16% in BicD^D control strains. This decrease in hatch-rate indicates an enhancement of the BicD^D phenotype by Khc⁸.

(Navarro et al., 2004)

The Gl¹/+ adult eye phenotype and the loss of photoreceptor nuclei from the retina in late third instar Gl¹/+ larvae are almost completely suppressed by Khc⁸/+. The loss of photoreceptor nuclei from the retina in late third instar Gl^Δ.Scer\UAS; Scer\GAL4^Glass38-1 larvae is almost completely suppressed by Khc⁸/+. Mislocalisation of the Bolwig's organ nuclei in Gl^Δ.Scer\UAS/Scer\GAL4^elav.PLu second instar larvae is partially suppressed by Khc⁸/+.

(Whited et al., 2004)

S^48-5/Khc⁸ mutants show 10.38%+-5.72 misrotated ommatidia compared to 9.55%+-1.43 seen in S^48-5 mutants alone.

(Gaengel and Mlodzik, 2003)

Heterozygosity for Khc⁸ dramatically increases the percentage of eggs laid by heat shocked Dmn^hs.PD flies with displaces and/or highly reduced dorsal appendages.

(Duncan and Warrior, 2002)

The addition of Appl^Scer\UAS.cTa or Appl^sd.Scer\UAS (driven by Scer\GAL4^Appl.G1a) to Khc⁸/+ animals causes the organelle jamming phenotype to be seen in this animals, thus enhancing the phenotype.

(Gunawardena and Goldstein, 2001)

Enhances the infantile phenotype of Appl^Scer\UAS.cTa, Scer\GAL4^Appl.G1a.

(Torroja et al., 1999)

Xenogenetic Interactions

Statement

Reference

Expression of Dana\Khc^{RNAi-res.Scer\UAS} under the control of Scer\GAL4^da.G32 rescues the lethality of Khc⁸/Df(2R)Jp6 flies.

(Schmidt et al., 2012)

The addition of Hsap\APP^{695.T.Scer\UAS}, Hsap\APP^{695-Swedish.Scer\UAS}, Hsap\APP^{695SPA4CT.Scer\UAS.T:Hsap\MYC}, Hsap\APLP2::Hsap\APP^{Scer\UAS.T:Hsap\MYC} or Hsap\APP^{V717F.LOND.Scer\UAS} (driven by Scer\GAL4^Appl.G1a) to Khc⁸/+ animals causes the organelle jamming phenotype to be seen in this animals, thus enhancing the phenotype. The addition of Hsap\APP^{695ΔCT.Scer\UAS.T:Hsap\MYC} or Appl^s.Scer\UAS has no effect on this phenotype.

(Gunawardena and Goldstein, 2001)

Complementation and Rescue Data

Fails to complement

Khc³⁷

(Brendza et al., 1999)

Khc³⁶

(Brendza et al., 1999)

Khc³²

(Brendza et al., 1999)

Khc²⁷

(Brendza et al., 1999)

Khc²⁴

(Brendza et al., 1999)

Khc²³

(Brendza et al., 1999)

Khc¹⁹

(Brendza et al., 1999)

Khc¹⁸

(Brendza et al., 1999)

Khc¹⁷

(Brendza et al., 1999)

Rescued by

Khc⁸/Df(2R)Jp6 is rescued by Scer\GAL4^da.G32/Khc^UAS.cSa

(Schmidt et al., 2012)

Khc⁸/Df(2R)Jp6 is rescued by Khc^UAS.N.GFP/Scer\GAL4^da.G32

(Schmidt et al., 2012)

Khc⁸ is rescued by Khc^+t7.5

(Torroja et al., 1999)

Khc⁸ is rescued by Khc^+t7.5

(Saxton et al., 1991)

Partially rescued by

Khc⁸/Df(2R)Jp6 is partially rescued by Scer\GAL4^elav-C155/Khc^UAS.cSa

(Schmidt et al., 2012)

Khc⁸/Df(2R)Jp6 is partially rescued by Scer\GAL80^repo.PL/Scer\GAL4^da.G32/Khc^UAS.cSa

(Schmidt et al., 2012)

Not rescued by

Khc⁸/Df(2R)Jp6 is not rescued by Scer\GAL4^repo/Scer\GAL4^repo.PL/Khc^UAS.cSa

(Schmidt et al., 2012)

Khc⁸/Df(2R)Jp6 is not rescued by Scer\GAL4^unspecified/Khc^UAS.C.GFP

(Schmidt et al., 2012)

Comments

Expression of either Khc^{Scer\UAS.N.T:Avic\GFP} or Khc^Scer\UAS.cSa under the control of Scer\GAL4^da.G32 rescues the lethality of Khc⁸/Df(2R)Jp6 flies.

(Schmidt et al., 2012)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

1607

b¹ pr¹ Khc⁸/CyO

Kyoto

106414

b¹ pr¹ Khc⁸/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

Khc⁸

(Bellen, 2020.5.15, Collins et al., 2017, Ehaideb et al., 2014, Schulman et al., 2014, Lin and Katanaev, 2013, Djagaeva et al., 2012, Schmidt et al., 2012, Cook and Cook, 2010.10.13, Johnson et al., 2009, Christensen et al., 2008.9.3, Christensen and Cook, 2007.5.8, Navarro et al., 2004, Brendza, 2000.3.2, Brendza et al., 1999)

Khc[8]

(Gassman et al., 2013)

khc-8

(Gaengel and Mlodzik, 2003)

khc8

(Henthorn et al., 2011)

khc⁸

(Rosen et al., 2019, Li et al., 2017, Gunawardena et al., 2013, Lloyd et al., 2012, Metzger et al., 2012, Henthorn et al., 2011, Xiong et al., 2010, Gaspar and Szabad, 2009)

Name Synonyms

Secondary FlyBase IDs

References (32)

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