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General Information
Symbol
Dmel\Khc17
Species
D. melanogaster
Name
FlyBase ID
FBal0101630
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:

C16269526T

Reported nucleotide change:

C1057T

Reported nucleotide change:

G12157032A

Amino acid change:

S246F | Khc-PA

Reported amino acid change:

S246F

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

Nucleotide substitution: C1057T.

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 ( 0 )
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

Khc17/Khc27 larvae show paralytic tail flipping on normal or rich food that is remarkably suppressed on poor food. Khc17/Khc27 animals show pupal lethality on poor, normal and rich food.

Khc17/Khc27 larvae show reduced flux of both neurosecretory dense core vesicles and mitochondria along the axons compared to wild type.

Results in larval posterior paralysis in combination with a null Khc allele.

Both anterograde and retrograde flux of axonal mitochondria is inhibited in Khc17/Khc27 larvae.

28% of eggs from females containing homozygous germline clones show defects in dorsal appendage morphology; 24% have fused dorsal appendages and 4% have reduced dorsal appendages.

The velocity of ooplasmic streaming in stage 10B oocytes is reduced in mutant females compared to wild type.

In Khc17/Khc27 larval motor axons, the anterograde and retrograde flux of mitochondria is reduced by 70-90%. The number of mitochondria in these mutant nerves is reduced by 50.5% in segments A2-A3.

Approximately 4% of Khc17 mutants are embryonic lethal, with 22% lethal in the larval/pupal stages and approximately 74% of Khc17 embryos surviving till adulthood. Some Khc17 oocytes exhibit minor slow streaming currents, but most endosomes show only short-range saltation. The few streaming movements do not contribute substantially to the mean velocity of randomly selected endosomes, which is approximately 2.4-fold less than wild-type. At stage 10B-11, Khc17 oocytes exhibit saltation and short, individual endosome displacement along with concerted fast-streaming currents, in 27% of cases. In approximately 10-15% of cases, weak streaming occurs throughout the oocyte. In another 10-15%, streaming is restricted to smaller regions. Randomly selected endosomes have a mean velocity approximately 7-fold less than in wild-type.

Hemizygotes sometimes survive to adulthood.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

The alterations in osk ribonucleoprotein motility which are seen in homozygous klarYG3 oocytes are partially suppressed if the females are also carrying Khc17/+.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
Comments
Comments

Based on the ability of the allele to compromise Khc function, the following alleles can be ranked from strongest to weakest as follows: Khc27 > Khc23 = Khc17.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
References (12)