FlyBase Allele Report: Dmel\Pmm2[HMS02649]

FB2025_01 , released February 20, 2025

FB2025_01 , released February 20, 2025

Allele: Dmel\Pmm2^HMS02649

General Information

Symbol

Dmel\Pmm2^HMS02649

Species

D. melanogaster

Name

FlyBase ID

FBal0281651

Feature type

allele

Associated gene

Associated Insertion(s)

Carried in Construct

P{TRiP.HMS02649}

Key Links

Genomic Maps

Transgenic product class

(Ni et al., 2010.12.1)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

(Ni et al., 2010.12.1)

Mutagen

in vitro construct

(Ni et al., 2010.12.1)

Progenitor genotype

Carried in construct

P{TRiP.HMS02649}

Cytology

Description

UAS regulatory sequences drive expression of a short inverted repeat.

(Ni et al., 2010.12.1)

Allele components

Component

Use(s)

Regulatory region(s)

binary expression system - regulatory region

Encoded product / tool

Also carries

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 ( 1 )

Disease

Evidence

References

model of congenital disorder of glycosylation type I

CEA

(Parkinson et al., 2016)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates congenital disorder of glycosylation Ij

modeled by Alg7^HMC03443

(Dalton et al., 2022)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^elav.PU, Scer\GAL4^how-24B

(Parkinson et al., 2016)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^how-24B

(Parkinson et al., 2016)

abnormal neurophysiology | third instar larval stage, with Scer\GAL4^elav.PU, Scer\GAL4^how-24B

(Parkinson et al., 2016)

increased cell number | third instar larval stage, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

increased cell number | third instar larval stage, with Scer\GAL4^elav.PU, Scer\GAL4^how-24B

(Parkinson et al., 2016)

increased cell number | third instar larval stage, with Scer\GAL4^how-24B

(Parkinson et al., 2016)

lethal - all die before end of P-stage, with Scer\GAL4^how-24B

(Parkinson et al., 2016)

lethal - all die before end of second instar larval stage, with Scer\GAL4^da.G32

(Parkinson et al., 2016)

short lived, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

short lived, with Scer\GAL4^Ugt36A1.PK

(Fu et al., 2017)

visible, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

Phenotype Manifest In

adult enterocyte | adult stage, with Scer\GAL4^Myo31DF.PU

(Xu et al., 2023)

adult pericardial cell, with Scer\GAL4^Ugt36A1.PK

(Fu et al., 2017)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^elav.PU, Scer\GAL4^how-24B

(Parkinson et al., 2016)

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^how-24B

(Parkinson et al., 2016)

intracellular organelle | adult stage, with Scer\GAL4^Myo31DF.PU

(Xu et al., 2023)

type I terminal bouton | increased number | third instar larval stage, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

type I terminal bouton | increased number | third instar larval stage, with Scer\GAL4^elav.PU, Scer\GAL4^how-24B

(Parkinson et al., 2016)

type I terminal bouton | increased number | third instar larval stage, with Scer\GAL4^how-24B

(Parkinson et al., 2016)

wing, with Scer\GAL4^elav.PU

(Parkinson et al., 2016)

Detailed Description

Statement

Reference

Adult flies expressing Pmm2^HMS02649 under the control of Scer\GAL4^Dot.PK display nephrocyte functional defects (measured by uptake assays) and reduced adult lifespan relative to controls.

(Fu et al., 2017)

Expression of Pmm2^HMS02649 under the control of Scer\GAL4^da.G32 leads to lethality in first and second instar larval stages.

Expression of Pmm2^HMS02649 under the control of Scer\GAL4^how-24B leads to lethality in P-stage; animals mechanically freed from pupal cases do not move or survive; third instar muscle 4 neuromuscular junctions display over-elaboration, with more branches and supernumerary type Is/Ib synaptic boutons, but no significant difference in overall synaptic terminal area; neurotransmission strength is not significantly changed in a two-electrode voltage clamp recording from third instar muscle 6, as compared to controls.

Expression of Pmm2^HMS02649 under the control of Scer\GAL4^elav.PU leads to reduced adult life span, adults display a highly penetrant wing posture defect and display locomotion defects in both climbing assays and a horizontal locomotion assay; third instar muscle 4 neuromuscular junctions display over-elaboration, with more branches, greater synaptic terminal area, and supernumerary type Is/Ib synaptic boutons; but neurotransmission strength is not significantly changed in a two-electrode voltage clamp recording from third instar muscle 6, as compared to controls.

Expression of Pmm2^HMS02649 under the control of both Scer\GAL4^how-24B and Scer\GAL4^elav.PU leads to third instar muscle 4 neuromuscular junctions displaying over-elaboration, with more branches, greater synaptic terminal area, and supernumerary type Is/Ib synaptic boutons; the neuromuscular junctions of muscles 6/7 also exhibit significantly increased synaptic terminal area; neurotransmission strength is significantly increased in a two-electrode voltage clamp recording from third instar muscle 6, as compared to controls.

(Parkinson et al., 2016)

External Data

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

42956

y¹ sc^* v¹ sev²¹; P{TRiP.HMS02649}attP40

HMS02649

y¹ sc^* v¹ sev²¹; P{TRiP.HMS02649}attP40/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

CG10688^HMS02649

Pmm2^HMS02649

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections