FlyBase Allele Report: Dmel\Pdk1[33]

General Information

Symbol

Dmel\Pdk1³³

Species

D. melanogaster

Name

FlyBase ID

FBal0265719

Feature type

allele

Associated gene

Dmel\Pdk1

Associated Insertion(s)

P{?SUPor-P}Pdk1³³

Carried in Construct

Key Links

Allele class

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Cheng et al., 2011)

Progenitor genotype

P{SUPor-P}Pdk1^KG01447

(Cheng et al., 2011)

Associated Insertion(s)

P{?SUPor-P}Pdk1³³

Cytology

Description

Imprecise excision of the progenitor insertion. Approximately 600bp of the original insertion remain.

(Cheng et al., 2011)

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 autism spectrum disorder

CEA with kis¹

(Genç et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates autism spectrum disorder

modeled by Rim¹⁰³

(Genç et al., 2020)

modeled by bchs⁵⁸

(Genç et al., 2020)

modeled by kis¹

(Genç et al., 2020)

modeled by Chd1¹

(Genç et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | third instar larval stage

(Cheng et al., 2011)

decreased body size | adult stage

(Cheng et al., 2011)

decreased body size | pupal stage

(Roth et al., 2018)

partially lethal - majority die

(Cheng et al., 2011)

Phenotype Manifest In

embryonic/larval neuromuscular junction | third instar larval stage

(Cheng et al., 2011)

motor neuron | larval stage

(Cheng et al., 2011)

NMJ bouton | third instar larval stage

(Cheng et al., 2011)

pupa

(Roth et al., 2018)

Detailed Description

Statement

Reference

Pdk1³³ homozygous pupae are considerable smaller and show a severely lower weight severely, as compared to heterozygous controls.

(Roth et al., 2018)

Homozygotes survive to the third instar larval stage and to the adult stage in reduced numbers. Homozygous adults show a severe reduction in body size compared to controls.

Motoneuron cell bodies are smaller in size than normal in homozygous larvae.

Absolute bouton number at the neuromuscular junction is normal in homozygous third instar larvae, while there is a 35% decrease in bouton size. The muscle fibres at the neuromuscular junction are 35% smaller than normal. As a result, normalised bouton number/muscle area at the mutant neuromuscular junction is increased by 55% compared to wild type. The number of active zones and the total synaptic area is significantly reduced at the mutant neuromuscular junction.

(Cheng et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Pdk1³³ has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^VGlut1-OK371/S6k^STDETE.UAS

(Cheng et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

Pdk1³³ has NMJ bouton | third instar larval stage phenotype, suppressible | partially by Scer\GAL4^VGlut1-OK371/S6k^STDETE.UAS

(Cheng et al., 2011)

NOT suppressed by

Statement

Reference

Pdk1³³ has NMJ bouton | third instar larval stage phenotype, non-suppressible by Scer\GAL4^VGlut1-OK371/S6k^UAS.cCa

(Cheng et al., 2011)

Other

Statement

Reference

Pdk1³³, Scer\GAL4^r4, Tl^10b.UAS.cUa has pupa phenotype

(Roth et al., 2018)

Pdk1³³, S6k^STDETE.UAS, Scer\GAL4^VGlut1-OK371 has NMJ bouton | third instar larval stage phenotype

(Cheng et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Expressing Tl^10b.UAS.cUa under the control of Scer\GAL4^r4 significantly decreases the weight of Pdk1³³ heterozygotes, but not of homozygotes.

(Roth et al., 2018)

Expression of S6k^{STDETE.Scer\UAS} under the control of Scer\GAL4^VGlut-OK371 partially rescues the reduction in bouton size at the neuromuscular junction which is seen in Pdk1³³ larvae. In addition, the number of boutons at the neuromuscular junction is increased compared to wild type.

Expression of S6k^Scer\UAS.cCa under the control of Scer\GAL4^VGlut-OK371 does not rescue the reduction in bouton size at the neuromuscular junction which is seen in Pdk1³³ larvae.

(Cheng et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescued by

Pdk1³³ is partially rescued by Scer\GAL4^VGlut1-OK371/Pdk1^UAS.Tag:FLAG

(Cheng et al., 2011)

Pdk1³³ is partially rescued by Pdk1^UAS.Tag:FLAG/Scer\GAL4^C57

(Cheng et al., 2011)

Comments

Expression of Pdk1^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^VGlut-OK371 fully restores the defects in bouton size which are seen at the Pdk1³³ neuromuscular junction, but the defects in muscle size that are also seen at the Pdk1³³ neuromuscular junction are not rescued.

Expression of Pdk1^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^C57 fully restores the defects in muscle size which are seen at the Pdk1³³ neuromuscular junction, but the defects in bouton size that are also seen at the Pdk1³³ neuromuscular junction are not rescued.

(Cheng et al., 2011)

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

PDK1³³

(Cheng et al., 2011)

Pdk1³³

Pdk1^Δ33

(Roth et al., 2018)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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