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General Information
Symbol
Dmel\Khc6
Species
D. melanogaster
Name
FlyBase ID
FBal0029878
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G16268041A

Reported nucleotide change:

C12155546T

Amino acid change:

R741Q | Khc-PA

Reported amino acid change:

R741Q

Comment:

Reported base location of mutation is relative to noncoding strand.

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

Amino acid replacement: R741Q.

Point mutation.

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 ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The 50% lethal phase of Khc6/Khc27 animals on normal and rich food is the third larval instar stage. On poor food, the 50% lethal phase is shifted to the pupal stage.

Khc6/Khc27 larvae show reduced flux of both neurosecretory dense core vesicles and mitochondria along the axons compared to wild type.

In Khc6/Khc27 larval motor axons, the anterograde and retrograde flux of mitochondria is reduced by 70-90%.

Khc6/Df(2R)Jp6 larvae exhibit early loss of motor activity in the ventral posterior segments causing an inbalance in bodywall contractions such that larvae rhythmically flip their tails upward during locomotion. Mutation causes organelle-filled axonal swellings that exhibit abnormal accumulation of nerve terminal proteins, syt, Csp, Syx1A and Fas3. Slow axonal transport does not make a substantial contribution to the swellings. Mutation causes dystrophic neuromuscular junctions; the number of synaptic boutons per muscle 6/7 junction in segments A2 and A6 in wandering third instar larvae is reduced threefold and fivefold respectively.

Khc6/KhcBD heteroallelic flies cultured at 22oC become paralysed at 39oC. The temperature threshold for this behavior is higher than that for mlenap-ts1 or parats1, and the timecourse of recovery is slower. For many minutes the flies remain sluggish. Shows no bang sensitivity.

Impairs action potential propagation in axons and neurotransmitter release at nerve terminals, but has no effect on the concentration of synaptic vesicles in nerve terminal cytoplasm, nor the number of axons in a nerve bundle. Post-synaptic response to spontaneous vesicle release is normal. The phenotype is more severe for the A6 segment than the A2 segment demonstrating a correlation between severity of phenotype and axon length.

Larval growth abnormalities and lack of mobility.

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

Khc6/KhcBD is a suppressor of abnormal behavior | recessive phenotype of eag1

Khc6/KhcBD is a suppressor of abnormal behavior phenotype of Sh14

Other
Statement
Reference
Phenotype Manifest In
Suppressor of
Statement
Reference

Khc6/KhcBD is a suppressor of leg phenotype of eag1

Khc6/KhcBD is a suppressor of leg phenotype of Sh14

Additional Comments
Genetic Interactions
Statement
Reference

Khc6/KhcBD suppresses the leg shaking of Sh14 and eag1 mutants, and this phenotype is reversed by addition of one copy of Khc+t7.5.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Comments

Expression of either KhcScer\UAS.N.T:Avic\GFP or KhcScer\UAS.cSa under the control of Scer\GAL4da.G32 rescues the lethality of Khc8/Df(2R)Jp6 flies but not of Khc6/Df(2R)Jp6 flies (indicating that Khc6 may be an antimorphic mutation).

The terminal phenotype is completely rescued by a single copy of the Khc+t7.5 transposon.

The paralysis of Khc6/KhcBD flies at 39oC is rescued by one copy of Khc+t7.5.

Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (12)