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General Information
Symbol
Dmel\Khc8
Species
D. melanogaster
Name
FlyBase ID
FBal0029880
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

C16269635T

Reported nucleotide change:

C948T

Amino acid change:

R210term | Khc-PA

Reported amino acid change:

R210term

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: R210term.

Nucleotide substitution: C948T.

Revision of data reported in FBrf0111813.

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
Modifiers Based on Experimental Evidence ( 1 )
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
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.

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

Animals expressing KhcGD12278 under the simultaneous control of both Scer\GAL4repo.PL and Scer\GAL4repo show reduced viability, the severity of which is increased if the flies are also heterozygous for Khc8.

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.

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

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

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

Larval growth abnormalities and lack of mobility.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference
Enhancer of
Suppressor of
Statement
Reference

Khc[+]/Khc8 is a suppressor of bang sensitive phenotype of pksple-1

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

Khc[+]/Khc8 is a suppressor of visible phenotype of DCTN1-p150UAS.cLa, Scer\GAL4GMR.PF

Other
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Enhancer of
Statement
Reference

Khc[+]/Khc8 is an enhancer of NMJ bouton phenotype of DCTN1-p150G38S

Khc[+]/Khc8 is an enhancer of phenotype of DCTN1-p150G38S/DCTN1-p150Δ22

Khc[+]/Khc8 is an enhancer of dorsal appendage phenotype of DCTN2-p50hs.PD

NOT Enhancer of
Statement
Reference

Khc8 is a non-enhancer of phenotype of zipEbr

Suppressor of
Statement
Reference

Khc[+]/Khc8 is a suppressor of eye phenotype of DCTN1-p150UAS.cLa, Scer\GAL4GMR.PF

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

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

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

Khc[+]/Khc8 is a suppressor | partially of eye photoreceptor cell & nucleus phenotype of DCTN1-p150Δ.UAS, Scer\GAL4Glass38-1

Khc[+]/Khc8 is a suppressor | partially of larval Bolwig's organ & nucleus phenotype of DCTN1-p150Δ.UAS, Scer\GAL4elav.PLu

Other
Additional Comments
Genetic Interactions
Statement
Reference

Bsg25Dnull.R/Bsg25Dnull.R, Khc8/+ stage 16 embryo myotubes present normal nuclear positioning.

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

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.

The presence of Khc8/+ enhances the multiple wing hair phenotype caused by expression of kermitScer\UAS.cLa under the control of Scer\GAL4Bx-MS1096.

GlG38S/GlΔ22 ; Khc8/+ animals rarely survive to pupal stages.

Khc8/+ strongly suppresses the rough eye phenotype caused by expression of GlScer\UAS.cLa under the control of Scer\GAL4GMR.PF.

Khc8/+ enhances the swelling of the terminal boutons which is seen in GlG38S larvae.

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

Scer\GAL4elav.PU-driven Hsap\TFRCScer\UAS.T:Avic\GFP is mis-localized in Khc8/+, ApcQ8/+ or Khc8/+, ApcX1/+ animals.

The early cleavage defects seen in embryos derived from αTub67Ckav-21g/+ females occur in a significantly larger proportion of embryos if the females also carry one copy of Khc8.

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

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 GlΔ.Scer\UAS; Scer\GAL4Glass38-1 larvae is almost completely suppressed by Khc8/+. Mislocalisation of the Bolwig's organ nuclei in GlΔ.Scer\UAS/Scer\GAL4elav.PLu second instar larvae is partially suppressed by Khc8/+.

S48-5/Khc8 mutants show 10.38%+-5.72 misrotated ommatidia compared to 9.55%+-1.43 seen in S48-5 mutants alone.

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

The addition of ApplScer\UAS.cTa or Applsd.Scer\UAS (driven by Scer\GAL4Appl.G1a) to Khc8/+ animals causes the organelle jamming phenotype to be seen in this animals, thus enhancing the phenotype.

Enhances the infantile phenotype of ApplScer\UAS.cTa, Scer\GAL4Appl.G1a.

Xenogenetic Interactions
Statement
Reference

Expression of Dana\KhcRNAi-res.Scer\UAS under the control of Scer\GAL4da.G32 rescues the lethality of Khc8/Df(2R)Jp6 flies.

The addition of Hsap\APP695.T.Scer\UAS, Hsap\APP695-Swedish.Scer\UAS, Hsap\APP695SPA4CT.Scer\UAS.T:Hsap\MYC, Hsap\APLP2::Hsap\APPScer\UAS.T:Hsap\MYC or Hsap\APPV717F.LOND.Scer\UAS (driven by Scer\GAL4Appl.G1a) to Khc8/+ animals causes the organelle jamming phenotype to be seen in this animals, thus enhancing the phenotype. The addition of Hsap\APP695ΔCT.Scer\UAS.T:Hsap\MYC or Appls.Scer\UAS has no effect on this phenotype.

Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
References (32)