FlyBase Allele Report: Dmel\Pak[11]

General Information

Symbol

Dmel\Pak¹¹

Species

D. melanogaster

Name

FlyBase ID

FBal0098350

Feature type

allele

Associated gene

Dmel\Pak

Associated Insertion(s)

Carried in Construct

Also Known As

dpak¹¹

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 results in a truncated protein of approximately 46kD.

(Hing et al., 1999)

Amino acid replacement: Q227term.

(Hing et al., 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:6,356,947..6,356,947 [+]

Nucleotide change:

C6356947T

Amino acid change:

Reported amino acid change:

Q227term

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates transthyretin amyloidosis

modeled by Hsap\TTR^{V30M.UAS.Tag:HA}

(Oliveira da Silva et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy (with Pak⁶)

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

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

antennal lobe (with Pak⁶)

(Ang et al., 2003)

antennal lobe & neuropil (with Pak⁶)

(Ang et al., 2003)

antennal lobe glomerulus DM2 (with Pak⁶)

(Ang et al., 2003)

antennal lobe glomerulus DM3 (with Pak⁶)

(Ang et al., 2003)

Bolwig nerve (with Pak⁶)

(Schmucker et al., 2000)

glial cell & antennal lobe (with Pak⁶)

(Ang et al., 2003)

lamina

(Hing et al., 1999)

larval abdominal segmental nerve (with Pak⁶)

(Kim et al., 2003)

medulla

(Hing et al., 1999)

neuron & antennal lobe (with Pak⁶)

(Ang et al., 2003)

photoreceptor cell & axon

(Hing et al., 1999)

postsynaptic membrane (with Pak⁶)

(Parnas et al., 2001)

postsynaptic membrane (with Pak⁷)

(Parnas et al., 2001)

subsynaptic reticulum | third instar larval stage

(Kumar et al., 2009)

wing

(Hing et al., 1999)

Detailed Description

Statement

Reference

Mutant third instar neuromuscular junctions show highly reduced subsynaptic reticulum.

(Kumar et al., 2009)

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.

(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 ultrastructure of synapses in Pak¹¹/Pak⁴ mutant larvae is indistinguishable from wild type. The subsynaptic reticulum at the NMJ between muscles 6 and 7 is reduced in size in both Pak¹¹/Pak⁶ and Pak¹¹/Pak⁷ 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.

(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

Enhancer of

Statement

Reference

Pak¹¹ is an enhancer of abnormal neuroanatomy phenotype of robo1⁵, sli¹

(Fan et al., 2003)

Suppressor of

Statement

Reference

Pak¹¹ is a suppressor of visible | adult stage phenotype of Hsap\TTR^{V30M.UAS.Tag:HA}, Scer\GAL4^GMR.PU

(Oliveira da Silva et al., 2020)

Pak¹¹/Pak[+] is a suppressor of abnormal neuroanatomy phenotype of LIMK1^UAS.Tag:HA, Scer\GAL4^ey-OK107

(Ng and Luo, 2004)

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)

Phenotype Manifest In

Enhancer of

Statement

Reference

Pak¹¹ is an enhancer of presumptive embryonic/larval central nervous system phenotype of robo1⁵

(Fan et al., 2003)

Suppressor of

Statement

Reference

Pak¹¹ is a suppressor of eye phenotype of Hsap\TTR^{V30M.UAS.Tag:HA}, Scer\GAL4^GMR.PU

(Oliveira da Silva et al., 2020)

Pak¹¹/Pak[+] is a suppressor of adult mushroom body phenotype of LIMK1^UAS.Tag:HA, Scer\GAL4^ey-OK107

(Ng and Luo, 2004)

NOT Suppressor of

Statement

Reference

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

Pak¹¹, Scer\GAL4^Mef2.PR, Synd^UAS.cKa has subsynaptic reticulum | third instar larval stage phenotype

(Kumar et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Scer\GAL4^Mef2.PR-mediated expression of Synd^Scer\UAS.cKa can induce postsynaptic membrane expansions in Pak¹¹ mutants that show highly reduced subsynaptic reticulum.

(Kumar et al., 2009)

Heterozygous Pak¹¹ enhances the frequency of central nervous system axon defects seen in sli¹, robo⁵ mutants. An average of 5.8 defects are seen per animal. 53% of segments (calculated as number of defects/segments) show defects.

(Fan 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)

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

8810

Pak¹¹/TM3, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (6)

Reported As

Symbol Synonym

Pak¹¹

(Oliveira da Silva et al., 2020, Singh et al., 2020, Ramos et al., 2015)

dPAK¹¹

(Kumar et al., 2009)

dPak¹¹

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

dpak 11

(Bahri et al., 2009)

dpak¹¹

(Kumar et al., 2009, Parnas et al., 2001)

pak¹¹

(Dent et al., 2019, Tjota et al., 2011, Ng and Luo, 2004)

Name Synonyms

Secondary FlyBase IDs

References (18)

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