FlyBase Allele Report: Dmel\pk[sple-1]

General Information

Symbol

Dmel\pk^sple-1

Species

D. melanogaster

Name

FlyBase ID

FBal0016024

Feature type

allele

Associated gene

Dmel\pk

Associated Insertion(s)

Carried in Construct

Also Known As

pk^sple1, sple¹, pk^sple

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

spontaneous

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Choi et al., 1996)

Mutagen

spontaneous

(Gubb et al., 1999)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q277term.

(Lilienthal et al., 2022)

Contains a nonsense mutation (Q277term) and a missense mutation (Q279P).

(Lilienthal et al., 2022)

Nucleotide substitution: C1594T.

(Lilienthal et al., 2022)

Amino acid replacement: Q279P.

(Lilienthal et al., 2022)

Nucleotide substitution: A1601C.

(Lilienthal et al., 2022)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:7,193,815..7,193,815 [+]

Nucleotide change:

C7193815T

Reported nucleotide change:

C1594T

Amino acid change:

Q277term | pk-PC

Reported amino acid change:

Q277term

Comment:

A Q277term mutation in pk isoform pk-PC. One of two amino acid changing mutations in pk^sple-1.

(Lilienthal et al., 2022)

point_mutation

2R:7,193,822..7,193,822 [+]

Nucleotide change:

A7193822C

Reported nucleotide change:

A1601C

Amino acid change:

Q279P | pk-PC

Reported amino acid change:

Q279P

Comment:

Missense mutation in pk. One of two amino acid changing mutations in pk^sple-1.

(Lilienthal et al., 2022)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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 epilepsy

CEA

(Chen et al., 2023, Nukala et al., 2023, Mituzaite et al., 2021, Paemka et al., 2015, Ehaideb et al., 2014, Tao et al., 2011)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of epilepsy

is ameliorated by Diap1^UAS.cHa

(Nukala et al., 2023)

is ameliorated by Dif^HM05257

(Nukala et al., 2023)

is ameliorated by Rel^E20

(Nukala et al., 2023)

is ameliorated by Rel^HMS00070

(Nukala et al., 2023)

is ameliorated by Sod1^UAS.cAa

(Nukala et al., 2023)

is ameliorated by faf^BX4

(Paemka et al., 2015)

is ameliorated by faf^B3

(Paemka et al., 2015)

is ameliorated by faf^BX3

(Paemka et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

abdomen

(Gubb et al., 1999)

abdomen & macrochaeta

(Craymer, 1980)

abdominal sternite & macrochaeta

(Craymer, 1980)

abdominal tergite & macrochaeta

(Craymer, 1980)

eye

(Gubb et al., 1999)

eye photoreceptor cell | somatic clone (with pk^pk-sple-13)

(Strutt et al., 2002)

larval peripheral nervous system | embryonic stage

(Tao et al., 2011)

larval segmental nerve | third instar larval stage

(Ehaideb et al., 2014)

leg

(Capilla et al., 2012, Gubb et al., 1999)

leg & macrochaeta

(Craymer, 1980)

leg & trichome

leg joint | ectopic

(Capilla et al., 2012, Gubb et al., 1999)

medulla | P-stage

(Han et al., 2020)

metatarsus

(Gubb et al., 1999)

ommatidium

(Clandinin and Zipursky, 2000, Gubb et al., 1999, Choi et al., 1996, Zheng et al., 1995)

ommatidium | adult stage, with Scer\GAL4^GMR.PY, pk^KK109294

(Cho et al., 2022)

ommatidium | somatic clone (with pk^pk-sple-13)

(Strutt et al., 2002)

photoreceptor cell R4 | precursor | somatic clone

(Jenny et al., 2003)

tarsal segment 1 & joint

(Gubb et al., 1999)

tarsal segment 2

(Gubb et al., 1999)

tarsal segment 3

(Gubb et al., 1999)

tarsal segment 4

(Gubb et al., 1999)

tarsal segment & joint

trichome

(Craymer, 1980)

vesicle | third instar larval stage

(Ehaideb et al., 2014)

wing blade dorsal compartment | posterior (with pk^sple-27)

(Doyle et al., 2008)

Detailed Description

Statement

Reference

In pk^sple-1 testes the number of normal individualization complexes (ICs), abnormal ICs and waste bags is similar to controls.

(Steinhauer et al., 2019)

pk^sple-1/+ mutant flies are bang sensitive. A high proportion of pk^sple-1/pk^sple-1 mutant flies exhibit seizure activity in the "fly flip" assay, and seizure activity is partially suppressed upon feeding with Degrasyn.

(Paemka et al., 2015)

pk^sple-1/+ adults are bang sensitive. In an electroconvulsive stimulation paradigm, pk^sple-1/+ flies show a lower threshold required to trigger seizure discharges, and more spikes are observed during seizure discharges, as compared to controls. pk^sple-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.

pk^sple-1/pk^sple-1 mutants do not exhibit significantly reduced viability, as compared to wild type.

(Ehaideb et al., 2014)

Mutant flies have ectopic joints on the leg. These ectopic joints are located proximal to the normal joint and have inverted polarity.

(Capilla et al., 2012)

Rotation of ommatidia is normal in mutant eyes, although chirality is randomised.

(Mirkovic et al., 2011)

pk^sple-1/pk^sple-1 or pk^sple-1/+ flies display severe delays in recovery from seizures (significantly more bang sensitive) compared to control flies. pk^sple-1/+ flies display an agitated recovery period with excessive grooming and flipping over. Administration of valproic acid to pk^sple-1/+ flies significantly decreases their bang sensitivity. pk^sple-1/+ flies show increased seizures regardless of genetic background. A small number of pk^sple-1/pk^sple-1 embryos have PNS defects (generalized disorganization, aberrant migration of neuronal processes).

(Tao et al., 2011)

Wing hairs of pk^sple-1/pk^sple-27 mutants display normal polarity across the wing.

pk^sple-1/pk^sple-27 mutant wings lack coherent ridges in the posterior region of the wing.

(Doyle et al., 2008)

Chirality defects in the eye appear to be associated with a mutant R4 precursor.

(Jenny et al., 2003)

Mutants show no significant disruption of ovarian morphology.

(Cohen et al., 2002)

57.8% of ommatidia in pk^pk-sple-13/pk^sple-1 mutant somatic clones in the eye are normal. 0.6% have rotated ommatidia, 41.6% have chirality defects, none are achiral (0% unscorable).

(Strutt et al., 2002)

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.

(Clandinin and Zipursky, 2000)

Causes no embryonic phenotype even when homozygous mutant embryos develop from homozygous mutant mothers. Wing phenotype is normal. Affects the eye, abdomen and leg. pk^sple-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.

(Gubb et al., 1999)

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.

(Choi et al., 1996)

Sections of pk^sple-1 mutant eyes show a disturbed ommatidial polarity within each ommatidium having the normal arrangement of photoreceptor cells.

(Zheng et al., 1995)

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.

(Craymer, 1980)

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

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

pk^sple-1 has bang sensitive | dominant phenotype, suppressible by faf^BX4/faf[+]

(Paemka et al., 2015)

pk^sple-1 has bang sensitive | dominant phenotype, suppressible by faf[+]/faf^B3

(Paemka et al., 2015)

pk^sple-1 has bang sensitive | dominant phenotype, suppressible by faf^BX3/faf[+]

(Paemka et al., 2015)

pk^sple-1 has bang sensitive phenotype, suppressible by Klc[+]/Klc^8ex94

(Ehaideb et al., 2014)

pk^sple-1 has abnormal neurophysiology | adult stage phenotype, suppressible by Klc[+]/Klc^8ex94

(Ehaideb et al., 2014)

pk^sple-1 has bang sensitive phenotype, suppressible by Khc[+]/Khc⁸

(Ehaideb et al., 2014)

pk^sple-1 has abnormal neurophysiology | adult stage phenotype, suppressible by Khc[+]/Khc⁸

(Ehaideb et al., 2014)

Enhancer of

Statement

Reference

pk^sple-1 is an enhancer of abnormal planar polarity phenotype of nmo^P1

(Mirkovic et al., 2011)

Phenotype Manifest In

Enhanced by

Statement

Reference

pk^sple-1 has metatarsus phenotype, enhanceable by dsh^unspecified

(Gubb et al., 1999)

Enhancer of

Statement

Reference

pk^sple-1 is an enhancer of ommatidium phenotype of nmo^P1

(Mirkovic et al., 2011)

pk[+]/pk^sple-1 is an enhancer of wing cell | adult stage | heat sensitive phenotype of shi¹

(Classen et al., 2005)

pk^sple-1 is an enhancer of metatarsus phenotype of dsh^unspecified

(Gubb et al., 1999)

Suppressor of

Statement

Reference

pk^sple-1 is a suppressor of wing phenotype of dsh^unspecified

(Gubb et al., 1999)

pk^sple-1 is a suppressor of wing hair phenotype of dsh^unspecified

(Gubb et al., 1999)

Additional Comments

Genetic Interactions

Statement

Reference

The presence of faf^BX4/+, faf^B3/+ or faf^BX3/+ rescues the bang-sensitive phenotype of pk^sple-1/+ mutants.

(Paemka et al., 2015)

Klc^8ex94/+ or Khc⁸/+ fully suppresses the bang sensitivity and lowered seizure threshold phenotypes of pk^sple-1/+ mutants.

(Ehaideb et al., 2014)

Many ommatidia do not rotate at all and remain oriented parallel to the equator in pk^sple-1 nmo^P1 double mutants.

(Mirkovic et al., 2011)

The formation of holes in wings due to temperature shift of shi¹/shi¹ animals during pupal stages is strongly enhanced by pk^sple-1/.

(Classen et al., 2005)

dsh^unspecified,pk^sple-1 flies have a dsh^unspecified like phenotype in the triple row. The dsh^unspecified wing hair phenotype is slightly, but consistently, reduced by pk^sple-1. In the tarsus there is a synergistic interaction between dsh^unspecified and pk^sple-1, with the double mutant giving a more extreme mirror image transformation of the T1 segment than either of the single mutants.

(Gubb et al., 1999)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

pk^sple-1 is rescued by pk^{Act5C.sple.EGFP}

(Strutt et al., 2013)

pk^sple-1 is rescued by pk^sple.sev

(Jenny et al., 2003)

Partially rescued by

pk^sple-1 is partially rescued by pk^{ΔCaaX.Act5C.sple.EGFP}

(Strutt et al., 2013)

Comments

pk¹/pk^sple-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.

(Ehaideb et al., 2014)

Expression of pk^{Act5C.sple.T:Avic\GFP-EGFP} fully rescues the planar polarity phenotype seen in pk^sple-1 mutant eyes and legs.

Expression of pk^{ΔCaaX.Act5C.sple.T:Avic\GFP-EGFP} partially rescues the planar polarity phenotypes seen in pk^sple-1 mutant eyes and legs. 5% of ommatidia are still inverted but the misrotation phenotype is completely rescued.

(Strutt et al., 2013)

Images (1)

Holtzman, S. and Kaufman, T. (2013)

Mutant

Wild-type

Stocks (2)

422

105903

Notes on Origin

Discoverer

Goldschmidt.

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (7)

Reported As

Symbol Synonym

pk sple

(Guarner et al., 2014)

pk-sple

(Mituzaite et al., 2021)

pk-sple¹

(Classen et al., 2005)

pk^sple-1

(Nukala et al., 2023, Han et al., 2020, Shimizu et al., 2011)

pk^sple1

(Cho et al., 2022, Lilienthal et al., 2022, Cho et al., 2020, Collu et al., 2018, Cho et al., 2015, Ehaideb et al., 2014, Strutt et al., 2013, Capilla et al., 2012, Weber et al., 2012, Mirkovic et al., 2011, Mirkovic et al., 2011, Tao et al., 2011, Djiane and Mlodzik, 2010, Doyle et al., 2008, Jenny et al., 2003, Lin and Gubb, 2003)

pk^sple

(Nukala et al., 2023, Paemka et al., 2015, Yasunaga et al., 2015, Ehaideb et al., 2014, Strutt et al., 2013)

sple¹

(Chen et al., 2023, Steinhauer et al., 2019, Merkel et al., 2014, Strutt et al., 2002, Clandinin and Zipursky, 2000, Cooper and Bray, 1999, Gubb, 1998, Choi et al., 1996, Zheng et al., 1995)

Name Synonyms

Secondary FlyBase IDs

References (40)

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