FlyBase Allele Report: Dmel\Pak[6]

General Information

Symbol

Dmel\Pak⁶

Species

D. melanogaster

Name

FlyBase ID

FBal0098342

Feature type

allele

Associated gene

Dmel\Pak

Associated Insertion(s)

Carried in Construct

Also Known As

dpak⁶

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Hing et al., 1999)

Mutagen

Progenitor genotype

Cytology

Description

Mutation is in the CRIB domain.

(Hing et al., 1999)

Amino acid replacement: R113term.

(Hing et al., 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:6,356,454..6,356,454 [+]

Nucleotide change:

C6356454T

Amino acid change:

Reported amino acid change:

R113term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Hing et al., 1999)

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 autism spectrum disorder

CEA with dlg1¹

(Grice et al., 2015)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy (with Pak⁴)

(Ang et al., 2006)

abnormal neuroanatomy (with Pak¹¹)

(Ang et al., 2003, Kim et al., 2003)

abnormal neuroanatomy | pupal stage (with Pak⁴)

(Ang et al., 2003)

abnormal neurophysiology (with Df(3R)WIN11)

(Albin and Davis, 2004)

lethal - all die before end of P-stage | recessive

(Hing et al., 1999)

some die during pharate adult stage | recessive

(Hing et al., 1999)

uncoordinated

(Hing et al., 1999)

Phenotype Manifest In

adult antennal nerve | P-stage (with Pak⁴)

(Ang et al., 2003)

antennal lobe (with Pak⁴)

(Ang et al., 2006)

antennal lobe (with Pak¹¹)

(Ang et al., 2003)

antennal lobe & neuropil (with Pak¹¹)

(Ang et al., 2003)

antennal lobe glomerulus DM2 (with Pak¹¹)

(Ang et al., 2003)

antennal lobe glomerulus DM3 (with Pak¹¹)

(Ang et al., 2003)

Bolwig nerve (with Pak¹¹)

(Schmucker et al., 2000)

bouton (with Pak³)

(Albin and Davis, 2004)

glial cell & antennal lobe (with Pak¹¹)

(Ang et al., 2003)

growth cone (with Pak¹⁰)

(Conder et al., 2004)

lamina

(Hing et al., 1999)

larval abdominal segmental nerve (with Pak¹¹)

(Kim et al., 2003)

medulla

(Hing et al., 1999)

medulla anlage (with Pak¹⁰)

(Conder et al., 2004)

neuron & antennal lobe (with Pak¹¹)

(Ang et al., 2003)

photoreceptor cell & axon

(Hing et al., 1999)

postsynaptic membrane (with Pak¹¹)

(Parnas et al., 2001)

wing

(Hing et al., 1999)

Detailed Description

Statement

Reference

Pak⁶/+ flies do not exhibit a significantly increased pacing-induced heart failure rate or arrhythmia, do not have significantly different diastolic or systolic intervals, nor any significant disruption in cellular architecture of cardiomyocytes as compared to controls.

(Qian et al., 2011)

In Pak⁴/Pak⁶ mutants, the antennal lobes are smaller than those of wild type and the boundaries surrounding individual glomeruli are frequently missing.

(Ang et al., 2006)

Pak⁶/Df(3R)WIN11 mutants exhibit a decrease in synaptic quantal size compared to Df(3R)WIN11/+. There is no difference in quantal content between Pak⁶/Df(3R)WIN11 and Df(3R)WIN11/+ mutants.

(Albin and Davis, 2004)

Pak⁶/Pak¹⁰ mutant animals have abnormally thick axon bundles in the medulla neuropil in the developing eye and axons terminate in poorly differentiated growth cones.

(Conder et al., 2004)

In Pak¹¹/Pak⁶ adults the antennal lobes are small and mis-shapen compared to wild-type, and have amorphous neuropil. Antennal glomeruli DM2 and DM3 are severely mis-shapen or split into smaller structures that are scattered randomly around the antennal lobe. The integrity and position of VA11m is unaffected, but it is enlarged and extends into the domains of surrounding glomeruli, in most cases completely engulfing the adjacent VA1d. Projection neurons and glial cells differentiate normally in antennal lobes of the mutants, but dendritic arborization of the projection neurons is more diffuse than in wild-type, and the number of glial processes is somewhat reduced. The development of neurons within the antennae appears normal. In Pak⁶/Pak⁴ homozygous pupae 30 hours after puparium formation (hAPF) the pattern of olfactory neurons projections from the antennae is normal. However, once in the antennal lobe, the axonal trajectories are clearly abnormal: instead of forming characteristic tracks, the fibers interweave to form a dense mat.

(Ang et al., 2003)

Motor axons in a Pak⁶/Pak¹¹ mutant background exhibit guidance defects: segmental nerve (SN)b/d and SNa motor axons often (21 and 22%, respectively) overextend and bypass their target muscles.

(Kim et al., 2003)

The subsynaptic reticulum at the NMJ between muscles 6 and 7 is reduced in size in Pak¹¹/Pak⁶ third instar larvae compared to wild type.

(Parnas et al., 2001)

In Pak⁶/Pak¹¹ embryos, either the entire Bolwig's Nerve, or a subset of its axons project to ectopic positions. These defects have over a 90% penetrance. About 5% of heterozygotes exhibit some Bolwig's nerve targeting defects.

(Schmucker et al., 2000)

Adult escapers are uncoordinated and have crumpled wings but are otherwise wild type in appearance. R cell axons extend into the brain normally in Pak⁶/Pak¹¹ flies. However these fibres do not spread evenly within the lamina and medulla. As a result some regions are hyperinnervated while others lack innervation. In the medulla neuropil, R cell axons fail to find their proper targets but instead terminate as abnormally thick, blunt ended fascicles. A small fraction of the R2-R5 neurons project through the lamina and into the medulla, indicating a modest disruption in ganglion target specificity. Some R1 to R6 axons fail to stop in the lamina, resulting in gaps in the lamina plexus. In addition, R cell axons form abnormally thick bundles between the lamina and medulla. Pak⁶/Pak¹¹ mutant ommatidia are largely indistinguishable from wild-type, of 898 ommatidia counted in four Pak mutant eyes, only nine ommatidia lacked a single R cell. R cell morphology is normal, as is lamina neuron and glial cell differentiation.

(Hing et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhancer of

Statement

Reference

Pak[+]/Pak⁶ is a non-enhancer of abnormal neuroanatomy phenotype of PsGEF^Δ21

(Higuchi et al., 2009)

Suppressor of

Statement

Reference

Pak[+]/Pak⁶ is a suppressor of abnormal neuroanatomy | third instar larval stage phenotype of dbo^henji-1/dbo^henji-8

(Wang et al., 2016)

Pak[+]/Pak⁶ is a suppressor | partially of lethal | larval stage phenotype of Df(3L)1226/kst²

(Lee and Thomas, 2011)

Pak[+]/Pak⁶ is a suppressor | partially of lethal | larval stage phenotype of kst^B1-14.1/kst²

(Lee and Thomas, 2011)

NOT Suppressor of

Statement

Reference

Pak¹¹/Pak⁶ is a non-suppressor of abnormal neuroanatomy phenotype of Cdc42^{V12.UAS.Tag:MYC}, Scer\GAL4^elav.PLu

(Kim et al., 2003)

Other

Statement

Reference

GluRIIA^SP16, Pak³/Pak⁶ has abnormal neurophysiology phenotype

(Albin and Davis, 2004)

GluRIIA^SP16, Pak[+]/Pak⁶ has abnormal neurophysiology phenotype

(Albin and Davis, 2004)

GluRIIA[+]/GluRIIA^SP16, Pak⁶ has abnormal neurophysiology phenotype

(Albin and Davis, 2004)

Phenotype Manifest In

Enhanced by

Statement

Reference

Pak⁶ has Bolwig nerve phenotype, enhanceable by Dscam1⁰⁵⁵¹⁸

(Schmucker et al., 2000)

Enhancer of

Statement

Reference

Pak⁶ is an enhancer of Bolwig nerve phenotype of Dscam1⁰⁵⁵¹⁸

(Schmucker et al., 2000)

NOT Enhancer of

Statement

Reference

Pak[+]/Pak⁶ is a non-enhancer of adult mushroom body alpha-lobe phenotype of PsGEF^Δ21

(Higuchi et al., 2009)

Pak⁶ is a non-enhancer of photoreceptor cell | precursor & nucleus phenotype of Scer\GAL4^unspecified, msn^DN.UAS

(Houalla et al., 2005)

Pak⁶ is a non-enhancer of amnioserosa phenotype of Rac1^V12.UAS, Scer\GAL4^hs.PB

(Conder et al., 2004)

Suppressor of

Statement

Reference

Pak[+]/Pak⁶ is a suppressor of bouton | third instar larval stage phenotype of dbo^henji-1/dbo^henji-8

(Wang et al., 2016)

Pak[+]/Pak⁶ is a suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of dbo^henji-1/dbo^henji-8

(Wang et al., 2016)

Pak⁶ is a suppressor of embryonic/first instar larval cuticle phenotype of Rac1^V12.UAS, Scer\GAL4^hs.PB

(Conder et al., 2004)

NOT Suppressor of

Statement

Reference

Pak⁶ is a non-suppressor of amnioserosa phenotype of Rac1^V12.UAS, Scer\GAL4^hs.PB

(Conder et al., 2004)

Pak¹¹/Pak⁶ is a non-suppressor of larval abdominal segmental nerve phenotype of Cdc42^{V12.UAS.Tag:MYC}, Scer\GAL4^elav.PLu

(Kim et al., 2003)

Other

Statement

Reference

Cdc42³, Pak[+]/Pak⁶ has adult heart phenotype

(Qian et al., 2011)

Cdc42³, Pak[+]/Pak⁶ has cardial cell phenotype

(Qian et al., 2011)

Pak[+]/Pak⁶, bnl⁰⁰⁸⁵⁷ has tracheal branch primordium phenotype

(Chihara et al., 2003)

Pak[+]/Pak⁶, bnl⁰⁰⁸⁵⁷ has dorsal group tracheal branch precursor phenotype

(Chihara et al., 2003)

Pak[+]/Pak⁶, bnl⁰⁰⁸⁵⁷ has tracheal dorsal trunk primordium phenotype

(Chihara et al., 2003)

Pak⁶, bnl[+]/bnl⁰⁰⁸⁵⁷ has tracheal branch primordium phenotype

(Chihara et al., 2003)

Pak⁶, bnl[+]/bnl⁰⁰⁸⁵⁷ has dorsal group tracheal branch precursor phenotype

(Chihara et al., 2003)

Pak⁶, bnl[+]/bnl⁰⁰⁸⁵⁷ has tracheal dorsal trunk primordium phenotype

(Chihara et al., 2003)

Pak⁶, bnl⁰⁰⁸⁵⁷ has tracheal branch primordium phenotype

(Chihara et al., 2003)

Pak⁶, bnl⁰⁰⁸⁵⁷ has dorsal group tracheal branch precursor phenotype

(Chihara et al., 2003)

Pak⁶, bnl⁰⁰⁸⁵⁷ has tracheal dorsal trunk primordium phenotype

(Chihara et al., 2003)

Additional Comments

Genetic Interactions

Statement

Reference

Pak⁶/+ fully suppresses the increased satellite bouton phenotype seen in dbo^henji-1/dbo^henji-8 mutant larval neuromuscular junctions.

(Wang et al., 2016)

More kst²/Df(3L)1226 mutant larvae that are also heterozygous for Pak⁶ survive into pupal stages and beyond than kst²/Df(3L)1226 controls.

More kst²/kst^B1-14.1 mutant larvae that are also heterozygous for Pak⁶ survive into pupal stages and beyond than kst²/Df(3L)1226 controls.

(Lee and Thomas, 2011)

Cdc42³/+; Pak⁶/+ double heterozygotes display severe cardiomyocyte organization abnormalities and contractile abnormalities as compared with either single heterozygote, but no differences in heart beat defects and overall rhythmicity.

(Qian et al., 2011)

Heterozygosity for Pak⁶ has no effect on the phenotype in the alpha lobes of the mushroom bodies that is seen in PsGEF^Δ21 animals.

(Higuchi et al., 2009)

0% of animals expressing msn^DN.Scer\UAS in the developing eye, combined with Pak⁶/+ exhibit a R-cell nuclear migration phenotype.

(Houalla et al., 2005)

Pak⁶/+ ; GluRIIA^SP16/+ mutants do not exhibit a statistically significant decrease in synaptic quantal size compared to wild-type. GluRIIA^SP16; Pak⁶/+ mutants exhibit a statistically significant decrease in synaptic quantal size compared to wild-type. GluRIIA^SP16; Pak⁶/+ mutants exhibit a significant increase in quantal content compared to controls, indicating homeostatic compensation. GluRIIA^SP16; Pak⁶/Pak³ mutants exhibit a statistically significant decrease in synaptic quantal size compared to wild-type. This is a statistically significant decrease compared to GluRIIA^SP16. GluRIIA^SP16; Pak⁶/Pak³ mutants exhibit a significant increase in quantal content compared to controls, indicating homeostatic compensation.

(Albin and Davis, 2004)

Pak⁶; bnl⁰⁰⁸⁵⁷ double heterozygotes have a range of tracheal phenotypes not seen in single heterozygotes for either of these alleles: The mildest phenotype is a misrouting of the dorsal branches toward the anteroposterior direction; more severely effected embryos also exhibit truncations of the dorsal trunk.

(Chihara et al., 2003)

The axon guidance defects seen in Cdc42^{V12.Scer\UAS.T:Hsap\MYC}; Scer\GAL4^elav.PLu embryos are unaffected by the background Pak⁶/Pak¹¹.

(Kim et al., 2003)

About 38% of Dscam⁰⁵⁵¹⁸/Pak⁶ embryos exhibit some Bolwig's nerve targeting defects.

(Schmucker et al., 2000)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Pak¹¹/Pak⁶ is rescued by Pak^GMR.PH

(Hing et al., 1999)

Partially rescued by

Pak¹¹/Pak⁶ is partially rescued by Pak^UAS.Tag:MYC/Scer\GAL4^SG18.1

(Ang et al., 2003)

Not rescued by

Pak¹¹/Pak⁶ is not rescued by Pak^{H91L.H94L.GMR}

(Hing et al., 1999)

Pak¹¹/Pak⁶ is not rescued by Pak^K459A.GMR

(Hing et al., 1999)

Comments

Scer\GAL4^SG18.1; Pak^{Scer\UAS.T:Hsap\MYC} (gives expression in olfactory neurons, but not in the brain) rescues the development of most glomeruli in Pak¹¹/Pak⁶ flies.

(Ang et al., 2003)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

8809

Pak⁶/TM3, Sb¹ Ser¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Pak⁶

(Singh et al., 2020, Ramos et al., 2015, Qian et al., 2011, Shin and Diantonio, 2011, Ang et al., 2006)

dPak⁶

(Lee and Schwarz, 2016, Urwyler et al., 2012)

dpak 6

(Bahri et al., 2009)

dpak⁶

(Wang et al., 2017, Wang et al., 2016, Parnas et al., 2001)

pak1⁶

(Corrigall et al., 2007)

pak⁶

(Dent et al., 2019, Grice et al., 2015, Ihry and Bashirullah, 2014, Lee and Thomas, 2011, Tjota et al., 2011, Higuchi et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (27)

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