FlyBase Allele Report: Dmel\Pi3K68D[HMS01296]

General Information

Symbol

Dmel\Pi3K68D^HMS01296

Species

D. melanogaster

Name

FlyBase ID

FBal0263296

Feature type

allele

Associated gene

Dmel\Pi3K68D

Associated Insertion(s)

Carried in Construct

P{TRiP.HMS01296}

Key Links

Genomic Maps

JBrowse

Transgenic product class

RNAi_reagent

(Ni et al., 2011.7.19)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

RNAi_reagent

(Ni et al., 2011.7.19)

Mutagen

in vitro construct

(Ni et al., 2011.7.19)

Progenitor genotype

Carried in construct

P{TRiP.HMS01296}

Cytology

Description

UAS regulatory sequences drive expression of a short inverted repeat.

(Ni et al., 2011.7.19)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

dsRNA-HMS01296

Also carries

loxP

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 ( 1 )

Disease

Interaction

References

ameliorates Charcot-Marie-Tooth disease type 4B1

modeled by mtm^G447D

(Hu et al., 2022)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology | larval stage, with Scer\GAL4^C57, Scer\GAL4^sca.PU

(Hauswirth et al., 2018)

Phenotype Manifest In

embryonic/larval neuromuscular junction | larval stage, with Scer\GAL4^C57, Scer\GAL4^sca.PU

(Hauswirth et al., 2018)

Detailed Description

Statement

Reference

Neurotransmission across the neuromuscular junctions of third instar larvae expressing Pi3K68D^HMS01296 under the combined control of Scer\GAL4^C57 and Scer\GAL4^sca.PU show an apparent increase in mEPSP amplitude and an apparent decrease in quantal content, but no apparent change in quantal content, as compared to controls.

(Hauswirth et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Scer\GAL4^αTub84B.PL/Pi3K68D^HMS01296 is a suppressor | partially of increased cell number | P-stage | somatic clone - tissue specific phenotype of ex^e1, mtm^null

(Hu et al., 2022)

Scer\GAL4^αTub84B.PL/Pi3K68D^HMS01296 is a suppressor | partially of increased size | somatic clone | adult stage phenotype of ex^e1, mtm^null