FlyBase Allele Report: Dmel\Ptp4E[1]

General Information

Symbol

Dmel\Ptp4E¹

Species

D. melanogaster

Name

FlyBase ID

FBal0241990

Feature type

allele

Associated gene

Dmel\Ptp4E

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Jeon et al., 2008)

Progenitor genotype

P{EP}CG44774^EP425

(Jeon et al., 2008)

Caused by aberration

Df(1)Ptp4E¹

Cytology

Description

Imprecise excision of P{EP}CG4068^EP425 removes approximately 10.5 kb starting 130 bp upstream of the progenitor P{EP}CG4068^EP425 insertion site to before the start of exon 3 of Ptp4E. This mutation removes the first and second exons, thus deleting the sequences encoding the initiating methionine and the first 67 amino acids of the Ptp4E protein. The excision event has also introduced an uncharacterised chromosomal rearrangement, and as a result, there are unrecognizable sequences between the endpoints.

(Jeon et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

complex_substitution

X:4,937,845..4,947,545 [+]

Comment:

Deletion/insertion Ptp4E¹ resulted from imprecise excision of P{EP}CG4068^EP425 and removes sequences from 130 bp upstream of the insertion to a site upstream of the third exon of Ptp4E. Sequences of unknown origon are inserted at the site. The deletion is reported as approximately 10.5 kb but that would remove exon 3 and part of exon 4 so it has been mapped as less than 10kb. The downstream breakpoint is a rough estimate.

(Jeon et al., 2008)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Ptp10D¹ together with Ptp4E¹ in double heterozygous state (but not as single heterozygotes) exacerbate retinal degeneration in a fly model of Parkinson's disease ectopically expressing Hsap\SNCA^Scer\UAS.cJa.

(Jansen et al., 2017)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

fertile

(Jeon et al., 2008)

fertile (with Df(1)ovo4)

(Jeon et al., 2008)

viable

(Jeon et al., 2008)

viable (with Df(1)ovo4)

(Jeon et al., 2008)

Phenotype Manifest In

Detailed Description

Statement

Reference

Hemizygous Ptp4E¹ males are viable, fertile and apparently healthy, as are Ptp4E¹/Df(1)ovo4 females.

(Jeon et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Ptp4E¹ has viable phenotype, suppressible by Ptp10D¹

(Jeon et al., 2008)

Enhancer of

Statement

Reference

Ptp10D[+], Ptp4E¹, Ptp10D¹, Ptp4E[+] is an enhancer of abnormal neuroanatomy | adult stage | progressive phenotype of Hsap\SNCA^UAS.cJa, Scer\GAL4^ninaE.PT

(Jansen et al., 2017)

Ptp4E¹/Ptp10D¹ is an enhancer of abnormal neuroanatomy phenotype of Ptp52F^18.3

(Jeon et al., 2008)

NOT Enhancer of

Statement

Reference

Ptp4E¹/Ptp4E[+] is a non-enhancer of abnormal neuroanatomy | adult stage | progressive phenotype of Hsap\SNCA^UAS.cJa, Scer\GAL4^ninaE.PT

(Jansen et al., 2017)

Ptp4E¹ is a non-enhancer of abnormal neuroanatomy phenotype of Ptp52F^18.3

(Jeon et al., 2008)

Other

Statement

Reference

Ptp69D¹/Df(3L)8ex25, Ptp10D¹, Ptp4E¹ has abnormal neuroanatomy | embryonic stage phenotype

(Jeon et al., 2008)

Ptp10D¹, Ptp4E¹ has abnormal neuroanatomy | embryonic stage phenotype

(Jeon et al., 2008)

Phenotype Manifest In

Enhanced by

Statement

Reference

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, enhanceable by Scer\GAL4^btl.PS/Egfr^2.A887T.UAS

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, enhanceable by Egfr^2.UAS/Scer\GAL4^btl.PS

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, enhanceable by btl^λ.UAS/Scer\GAL4^btl.PS

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, enhanceable by Scer\GAL4^btl.PS/Raf^UAS.F179

(Jeon and Zinn, 2009)

Suppressed by

Statement

Reference

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal lateral trunk phenotype, suppressible by Scer\GAL4^btl.PS/exp^B.UAS.Tag:HA

(Iordanou et al., 2014)

Ptp10D¹, Ptp4E¹ has embryonic/larval ganglionic tracheal branch phenotype, suppressible by Scer\GAL4^btl.PS/exp^B.UAS.Tag:HA

(Iordanou et al., 2014)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, suppressible by Scer\GAL4^btl.PS/Egfr^DN.UAS.cBa

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, suppressible by Scer\GAL4^btl.PS/Egfr^GD1654

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, suppressible by Egfr[+]/Egfr^k05115

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype, suppressible by btl[+]/btl¹¹⁸⁷

(Jeon and Zinn, 2009)

Enhancer of

Statement

Reference

Ptp10D[+], Ptp4E¹, Ptp10D¹, Ptp4E[+] is an enhancer of retina | adult stage | progressive phenotype of Hsap\SNCA^UAS.cJa, Scer\GAL4^ninaE.PT

(Jansen et al., 2017)

Ptp10D[+], Ptp4E¹, Ptp10D¹, Ptp4E[+] is an enhancer of ommatidium | adult stage | progressive phenotype of Hsap\SNCA^UAS.cJa, Scer\GAL4^ninaE.PT

(Jansen et al., 2017)

Ptp4E¹/Ptp10D¹ is an enhancer of motor neuron phenotype of Ptp52F^18.3

(Jeon et al., 2008)

NOT Enhancer of

Statement

Reference

Ptp4E¹/Ptp4E[+] is a non-enhancer of retina | adult stage | progressive phenotype of Hsap\SNCA^UAS.cJa, Scer\GAL4^ninaE.PT

(Jansen et al., 2017)

Ptp4E¹/Ptp4E[+] is a non-enhancer of ommatidium | adult stage | progressive phenotype of Hsap\SNCA^UAS.cJa, Scer\GAL4^ninaE.PT

(Jansen et al., 2017)

Ptp4E¹ is a non-enhancer of motor neuron phenotype of Ptp52F^18.3

(Jeon et al., 2008)

Other

Statement

Reference

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal lateral trunk phenotype

(Iordanou et al., 2014, Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval ganglionic tracheal branch phenotype

(Iordanou et al., 2014, Jeon and Zinn, 2009)

Ptp10D^EP1172, Ptp4E¹ has embryonic/larval ganglionic tracheal branch phenotype

(Jeon and Zinn, 2009)

Egfr^2.A887T.UAS, Ptp10D¹, Ptp4E¹, Scer\GAL4^btl.PS has embryonic/larval dorsal tracheal branch phenotype

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval visceral tracheal branch phenotype

(Jeon and Zinn, 2009)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal system phenotype

(Jeon and Zinn, 2009)

Ptp69D¹/Df(3L)8ex25, Ptp10D¹, Ptp4E¹ has larval ventral nerve cord phenotype

(Jeon et al., 2008)

Ptp10D¹, Ptp4E¹, Ptp52F^18.3 has abdominal nerve phenotype

(Jeon et al., 2008)

Ptp4E¹, Ptp69D¹ has larval ventral nerve cord phenotype

(Jeon et al., 2008)

Ptp69D¹/Df(3L)8ex25, Ptp10D¹, Ptp4E¹ has larval intersegmental nerve branch ISNb of A1-7 phenotype

(Jeon et al., 2008)

Ptp69D¹/Df(3L)8ex25, Ptp10D¹, Ptp4E¹ has larval segmental nerve branch SNa of A1-7 phenotype

(Jeon et al., 2008)

Ptp10D¹, Ptp4E¹ has larval ventral nerve cord phenotype

(Jeon et al., 2008)

Ptp10D¹, Ptp4E¹ has embryonic/larval tracheal section phenotype

(Jeon et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Ptp4E¹ Ptp10D¹ double mutants exhibit bubble-like cysts with an enlarged diameter in unicellular (lateral trunk, ganglionic branch) and intracellular (lateral ganglionic branch) tracheal branches, but not in multicellular branches (dorsal trunk) or intracellular fusion branches. This phenotype is significantly reduced by Scer\GAL4^btl.PS-mediated expression of exp^{B.Scer\UAS.T:Ivir\HA1}.

(Iordanou et al., 2014)

Ptp10D¹ Ptp4E¹ double mutants die as hatched larvae with collapsed tracheae. The tracheae have large bubble-like cysts on select branches and dorsal tracheal trunk are serpentine (indicating an increased length). The overall branching pattern of the tracheal network is normal.

The junctions between the transverse connective and lateral trunk branches are enlarged in stage 14 Ptp10D¹ Ptp4E¹ double mutant embryos. The anterior branches of the lateral trunk (which have not yet fused across segmental borders) have large cysts and the ganglionic branches have small cysts, By stage 15, cysts are seen at all transverse connective/lateral branch junctions and along the lateral trunk and ganglionic branches in the double mutant embryos. The visceral branch also develops large cysts at this stage.

Ultrastructural analysis of sections through lateral trunk branches shows that the cysts seen in Ptp10D¹ Ptp4E¹ double mutant embryos have variable diameters, averaging around 4.6μm. Cysts and normal lumens are never seen in the same section, suggesting that cysts in unicellular tubes are expanded forms of lumen sealed with adherens junctions.

Cysts are seen in the ganglionic branches and the diameter of the ganglionic branches is larger than normal in Ptp4E¹ Ptp10D^EP1172 double mutant embryos.

Expression of Egfr^{2.A887T.Scer\UAS} under the control of Scer\GAL4^btl.PS enhances the tracheal defects seen in Ptp10D¹ Ptp4E¹ double mutant embryos; the increase in diameter of the transverse connective/lateral trunk junction is further enhanced, and cysts appear on all dorsal branches.

(Jeon and Zinn, 2009)

Ptp4E¹, Ptp10D¹/Y double mutant animals can hatch out into first instar larvae, but die immediately after hatching.

Ptp4E¹ Ptp10D¹ double mutants show mild central nervous system defects. The longitudinal axons appear wavy and the outermost longitudinal axon tract is discontinuous and often invades the middle (intermediate) longitudinal axon tract. Btau\MAPT^{Sema-2b.T:Hsap\MYC}-positive axons project in a normal manner in the double mutants. However, they have a consistent defect within their longitudinal projecting segment, in which the axon bundles do not form a tight bundle, but have a frayed appearance.

Ptp4E¹ Ptp10D¹ double mutant larvae have severe tracheal defects.

Ptp4E¹ Ptp69D¹ double mutant embryos display only very mild central nervous system defects, in which the outer longitudinal bundle is slightly wavy.

Ptp4E¹ Ptp10D¹; Ptp69D¹/Df(3L)8ex25 triple mutant embryos show midline crossing defects in the ventral nerve cord. There are always two, and sometimes three, longitudinal bundles in the triple mutant. The triple mutants have a stronger ISNb phenotype than any of the component double mutants. This is a "clump" phenotype in which 90% of ISNbs terminate in a darkly staining blob at the dorsal border of muscle 6. In cases where the ISNb passes this point, it is often misrouted, or bypasses the muscle field by growing along the ISN. The axons often ectopically project interiorly to muscle 12 from the ISN. In Ptp4E¹ Ptp10D¹; Ptp69D¹/Df(3L)8ex25 triple mutants, the ratio of very thin SNa nerves is increased, compared to Ptp10D¹; Ptp69D¹/Df(3L)8ex25 double mutants.

Ptp4E¹ Ptp52F^18.3 double mutants have motor axon phenotypes indistinguishable from Ptp52F^18.3 single mutants.

Ptp4E¹ Ptp10D¹ Ptp52F^18.3 triple mutants have stronger motor axon phenotypes than Ptp52F^18.3 single mutants. The triple mutants also exhibit an enhancement of the ISN truncation phenotype seen at the second branchpoint in Ptp10D¹ Ptp52F^18.3 double mutants.

(Jeon et al., 2008)

Xenogenetic Interactions

Statement

Reference

The age-progressive retinal degeneration characteristic for flies expressing Hsap\SNCA^Scer\UAS.cJa under the control of Scer\GAL4^ninaE.PT is significantly enhanced by combination with Ptp10D¹ and Ptp4E¹ in double heterozygous state, combination with single copy of each allele alone does not exacerbate the retinal phenotype.

(Jansen et al., 2017)

Complementation and Rescue Data

Comments

Expression of Ptp4E^{Scer\UAS.T:Avic\GFP} under the control of Scer\GAL4^btl.PS completely rescues the tracheal defects of Ptp4E¹ Ptp10D¹ double mutant embryos.

Expression of Ptp10D^EP1172 under the control of Scer\GAL4^btl.PS completely rescues the tracheal defects of Ptp4E¹ Ptp10D^EP1172 double mutant embryos.

(Jeon and Zinn, 2009)

Scer\GAL4^btl.PS-driven Ptp4E^{Scer\UAS.T:Avic\GFP}-expression is capable of rescuing the lethality and tracheal phenotypes associated with the Ptp4E¹-Ptp10D¹ double mutant genotypes. Similarly to ubiquitous overexpression of Ptp4E^{Scer\UAS.T:Avic\GFP} driven by Scer\GAL4^αTub84B.PL, pan-neural overexpression of Ptp4E^{Scer\UAS.T:Avic\GFP} driven by Scer\GAL4^elav.PLu does not rescue the lethality in a Ptp4E¹-Ptp10D¹ background.