FlyBase Allele Report: Dmel\Pak3[Df]

General Information

Symbol

Dmel\Pak3^Df

Species

D. melanogaster

Name

FlyBase ID

FBal0297263

Feature type

allele

Associated gene

Dmel\Pak3

Associated Insertion(s)

P+PBac{XP5.RB3}Pak3^Df

Carried in Construct

Also Known As

Df(3R)pak3

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

FLPase

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Ozdowski et al., 2011)

Mutagen

FLPase

(Ozdowski et al., 2011)

Progenitor genotype

P{XP}Pak3^d02472

(Ozdowski et al., 2011)

PBac{RB}Pak3^e00329

(Ozdowski et al., 2011)

Associated Insertion(s)

P+PBac{XP5.RB3}Pak3^Df

Cytology

Description

Recombination between P{XP}Pak3^d02472 and PBac{RB}Pak3^e00329 has resulted in deletion of Pak3.

(Ozdowski et al., 2011)

Allele components

Component

Use(s)

Also carries

FRT

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:16,449,272..16,453,698 [-]

Comment:

Deletion of Pak3 resulting from FLP-catalyzed recombination using the FRT-containing transposons P{XP}Pak3[d02472] and PBac{RB}Pak3[e00329].

(Ozdowski et al., 2011)

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 hereditary spastic paraplegia

modeled by spas^5.75

(Ozdowski et al., 2011)

ameliorates hereditary spastic paraplegia 4

modeled by spas^T32

(Ozdowski et al., 2011)

modeled by spas^5.75

(Ozdowski et al., 2020)

Comments on Models/Modifiers Based on Experimental Evidence ( 2 )

FlyBase curator note: Pak3^Df in trans to Pak3^d02472 ameliorates spas^5.75 phenotype.

(Ozdowski et al., 2020)

Pak3^Df ameliorates the neuromuscular junction phenotypes seen in spas^5.75 when heterozygous with Pak3^d02472.

(Ozdowski et al., 2011)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

lethal - all die before end of first instar larval stage | recessive

(Ozdowski et al., 2011)

lethal - all die before end of larval stage (with Pak3^d02472)

(Ozdowski et al., 2011)

partially lethal - majority die (with Pak3^e00329)

(Ozdowski et al., 2011)

Phenotype Manifest In

Detailed Description

Statement

Reference

The NMJs of Pak3^Df/Pak3^d02472 mutant larvae display linear bouton arrangements that are very similar to wild type, with little to no change in bouton number, size, morphology, or microtubule distribution. The mean amplitude of evoked excitatory junction potentials (EJPs) in third instar larvae are similar to controls, as are mEJP amplitude and quantal content. However mEJP frequency is reduced in Pak3^Df/Pak3^d02472 mutants.

(Ozdowski et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Pak3^Df is a suppressor | partially of visible phenotype of Scer\GAL4^GMR.PU, spas^T32

(Ozdowski et al., 2011)

Pak3^d02472/Pak3^Df is a suppressor of abnormal neuroanatomy phenotype of spas^5.75

(Ozdowski et al., 2011)

Pak3^d02472/Pak3^Df is a suppressor of abnormal neurophysiology phenotype of spas^5.75

(Ozdowski et al., 2011)

Phenotype Manifest In

Suppressor of

Statement

Reference

Pak3^Df is a suppressor | partially of eye phenotype of Scer\GAL4^GMR.PU, spas^T32

(Ozdowski et al., 2011)

Pak3^d02472/Pak3^Df is a suppressor of NMJ bouton phenotype of spas^5.75

(Ozdowski et al., 2011)

Pak3^d02472/Pak3^Df is a suppressor of microtubule phenotype of spas^5.75

(Ozdowski et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Pak3^Df partially suppresses the eye phenotype seen when spas^T32 is expressed under the control of Scer\GAL4^GMR.PU.

Pak3^Df/Pak3^d02472 completely suppresses the defects in axonal branching and microtubule organisation seen in homozygous spas^5.75 larval neuromuscular junctions. Bunched synaptic boutons are also no longer observed and the reductions in Excitatory Junction Potential (EJP) amplitude and quantal content are fully rescued. In contrast to either mutant alone, the miniature EJP frequency in Pak3^Df/Pak3^d02472 spas^5.75 double mutants is similar to controls.

(Ozdowski et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Df(3R)Pak3

(Ozdowski et al., 2020)

Df(3R)pak3

(Ozdowski et al., 2011)

Pak3^Df

(Ozdowski et al., 2020)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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