FlyBase Allele Report: Dmel\Pak3[d02472]

General Information

Symbol

Dmel\Pak3^d02472

Species

D. melanogaster

Name

FlyBase ID

FBal0182355

Feature type

allele

Associated gene

Dmel\Pak3

Associated Insertion(s)

P{XP}Pak3^d02472

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

Mutagen

P-element activity

Nature of the Allele

Allele class

hypomorphic allele - molecular evidence

(Ozdowski et al., 2011)

Mutagen

P-element activity

(Gene Disruption Project members and Exelixis, 2005)

Progenitor genotype

Associated Insertion(s)

P{XP}Pak3^d02472

Cytology

Description

Allele components

Component

Use(s)

Inserted element

P{XP}

misexpression element

Regulatory region(s)

UAS

binary expression system - regulatory region

Also carries

FRT

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

transposable_element_insertion_site

3R:16,449,272..16,449,272 [+]

(Ozdowski et al., 2011, Gene Disruption Project members and Exelixis, 2005)

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^d02472 in trans to Pak3^Df ameliorates spas^5.75 phenotype.

(Ozdowski et al., 2020)

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

(Ozdowski et al., 2011)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology (with Pak3^e00329)

(Ozdowski et al., 2011)

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

(Ozdowski et al., 2011)

partially lethal - majority die

(Ozdowski et al., 2011)

partially lethal - majority live (with Pak3^e00329)

(Ozdowski et al., 2011)

Phenotype Manifest In

Detailed Description

Statement

Reference

The NMJs of homozygous Pak3^d02472 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 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. 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^d02472 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^d02472 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^d02472 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 (1)

Bloomington

85416

w¹¹¹⁸; P{XP}Pak3^d02472/TM6B, Tb¹

Notes on Origin

Discoverer

Separable from: a lethal mutation.

(Ozdowski et al., 2011)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Pak3^d02472

(Ozdowski et al., 2020)

Pak3^d

(Ozdowski et al., 2020)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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