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General Information
Symbol
Dmel\pksple-1
Species
D. melanogaster
Name
FlyBase ID
FBal0016024
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
pksple1, sple1, pksple
Mutagen
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference
Carried on aberration
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 )
Disease
Interaction
References
model of  epilepsy
is ameliorated by fafBX4
is ameliorated by fafB3
is ameliorated by fafBX3
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference
pksple-1/+ mutant flies are bang sensitive. A high proportion of pksple-1/pksple-1 mutant flies exhibit seizure activity in the "fly flip" assay, and seizure activity is partially suppressed upon feeding with Degrasyn.
pksple-1/+ adults are bang sensitive. In an electroconvulsive stimulation paradigm, pksple-1/+ flies show a lower threshold required to trigger seizure discharges, and more spikes are observed during seizure discharges, as compared to controls. pksple-1/+ larval segmental nerves display enhanced anterograde vesicle transport, as shown by reduced vesicle pause frequencies in the anterograde (but not retrograde) direction, and a decreased percentage of vesicles moving in the retrograde (but not anterograde) direction, as compared with controls. Vesicle velocity is not significantly changed in either direction. pksple-1/pksple-1 mutants do not exhibit significantly reduced viability, as compared to wild type.
Mutant flies have ectopic joints on the leg. These ectopic joints are located proximal to the normal joint and have inverted polarity.
Rotation of ommatidia is normal in mutant eyes, although chirality is randomised.
pksple-1/pksple-1 or pksple-1/+ flies display severe delays in recovery from seizures (significantly more bang sensitive) compared to control flies. pksple-1/+ flies display an agitated recovery period with excessive grooming and flipping over. Administration of valproic acid to pksple-1/+ flies significantly decreases their bang sensitivity. pksple-1/+ flies show increased seizures regardless of genetic background. A small number of pksple-1/pksple-1 embryos have PNS defects (generalized disorganization, aberrant migration of neuronal processes).
Wing hairs of pksple-1/pksple-27 mutants display normal polarity across the wing. pksple-1/pksple-27 mutant wings lack coherent ridges in the posterior region of the wing.
Chirality defects in the eye appear to be associated with a mutant R4 precursor.
Mutants show no significant disruption of ovarian morphology.
57.8% of ommatidia in pkpk-sple-13/pksple-1 mutant somatic clones in the eye are normal. 0.6% have rotated ommatidia, 41.6% have chirality defects, none are achiral (0% unscorable).
The orientation of projections of R1-R6 axons onto the lamina is normal for those ommatidia that are correctly orientated, and rotated for those ommatidia that are rotated.
Causes no embryonic phenotype even when homozygous mutant embryos develop from homozygous mutant mothers. Wing phenotype is normal. Affects the eye, abdomen and leg. pksple-1 eyes contain a mixture of ommatidia with reversed polarity and chirality in both hemispheres of the eye. These ommatidia remain aligned along the polar axis, but with their R3 photoreceptors receptors directed toward the equator rather than the pole giving rise to the dorsal-ventral mirror image reversals of the normal rhabdomere pattern. Wings are wild-type. About 1% of ommatidia are reversed in the anterior-posterior axis of the eye. Tarsal duplications affect T2, T3 and T4 segments, with an occasional incipient ectopic joint in the T1. T5 is unaffected. Denticle belt morphology and denticle orientation remains wild-type.
Many ommatidia show polarity reversals. Polarity of ommatidia is close to random in both the dorsal and ventral halves of the eye. Polarity reversals occur at 45%, A/P reversals occur at only 1%. The polarity of each ommatidium is independent of that of its neighbours. There is no abnormality in photoreceptor number per ommatidium, or in the hexagonal array of ommatidia. The D/V boundary is present, as in wild type.
Sections of pksple-1 mutant eyes show a disturbed ommatidial polarity within each ommatidium having the normal arrangement of photoreceptor cells.
RK1. Bristles on legs and abdomen direct abnormally. Sternital bristles point in a more anterior direction that in wild type and tergital bristles are directed toward the midline of the abdomen. Trichomes also are directed abnormally.
Polarity of chaetae and trichomes on legs irregular; relations between bracts and bristles disrupted. High incidence of ectopic tarsal joints with inverted polarity, especially in tarsae 3 and 4; incomplete intersegmental membranes between tarsal segments, especially between segments 3 and 4; no extra sensilla companiformia despite extra joints. Chaetae on abdominal tergites turned toward midline instead of pointing posteriorly as in wild type; polarity of bristles on sternites disrupted as well.
External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference
pksple-1 has bang sensitive | dominant phenotype, suppressible by fafBX4/faf[+]
pksple-1 has bang sensitive | dominant phenotype, suppressible by faf[+]/fafB3
pksple-1 has bang sensitive | dominant phenotype, suppressible by fafBX3/faf[+]
pksple-1 has bang sensitive phenotype, suppressible by Klc[+]/Klc8ex94
pksple-1 has bang sensitive phenotype, suppressible by Khc[+]/Khc8
Enhancer of
Statement
Reference
Phenotype Manifest In
Enhanced by
Statement
Reference
pksple-1 has metatarsus phenotype, enhanceable by dshunspecified
Enhancer of
Statement
Reference
pksple-1 is an enhancer of ommatidium phenotype of nmoP1
pk[+]/pksple-1 is an enhancer of wing cell | adult stage | heat sensitive phenotype of shi1
pksple-1 is an enhancer of metatarsus phenotype of dshunspecified
Suppressor of
Statement
Reference
pksple-1 is a suppressor of wing phenotype of dshunspecified
pksple-1 is a suppressor of wing hair phenotype of dshunspecified
Additional Comments
Genetic Interactions
Statement
Reference
The presence of fafBX4/+, fafB3/+ or fafBX3/+ rescues the bang-sensitive phenotype of pksple-1/+ mutants.
Klc8ex94/+ or Khc8/+ fully suppresses the bang sensitivity and lowered seizure threshold phenotypes of pksple-1/+ mutants.
Many ommatidia do not rotate at all and remain oriented parallel to the equator in pksple-1 nmoP1 double mutants.
The formation of holes in wings due to temperature shift of shi1/shi1 animals during pupal stages is strongly enhanced by pksple-1/.
dshunspecified,pksple-1 flies have a dshunspecified like phenotype in the triple row. The dshunspecified wing hair phenotype is slightly, but consistently, reduced by pksple-1. In the tarsus there is a synergistic interaction between dshunspecified and pksple-1, with the double mutant giving a more extreme mirror image transformation of the T1 segment than either of the single mutants.
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Partially rescued by
Comments
pk1/pksple-1 flies do not exhibit significantly increased bang sensitivity, nor a significant difference in threshold required to trigger seizure discharges or spiking activity in an electroconvulsive stimulation paradigm, as compared to wild type.
Expression of pkAct5C.sple.T:Avic\GFP-EGFP fully rescues the planar polarity phenotype seen in pksple-1 mutant eyes and legs. Expression of pkΔCaaX.Act5C.sple.T:Avic\GFP-EGFP partially rescues the planar polarity phenotypes seen in pksple-1 mutant eyes and legs. 5% of ommatidia are still inverted but the misrotation phenotype is completely rescued.
Images (1)
Stocks (2)
Notes on Origin
Discoverer
Goldschmidt.
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (6)
References (28)