FlyBase Allele Report: Dmel\Pdh[1]

General Information

Symbol

Dmel\Pdh¹

Species

D. melanogaster

Name

FlyBase ID

FBal0244068

Feature type

allele

Associated gene

Dmel\Pdh

Associated Insertion(s)

TI{TI}Pdh¹

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

recombination

(Wang et al., 2010)

I-SceI

(Wang et al., 2010)

FLPase

(Wang et al., 2010)

ends-out gene targeting

(Wang et al., 2010)

Progenitor genotype

Associated Insertion(s)

TI{TI}Pdh¹

Cytology

Description

A 515 bp region of Pdh encompassing the translation initiation site and the N-terminal 81 residues (nucleotides -186 to +329 relative to the predicted Pdh transcription initiation site) has been replaced by a w^+mW.hs marker.

(Wang et al., 2010)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:16,353,968..16,354,483 [-]

Comment:

A 515 bp deletion was created by ends-out homologous recombination and is reported to extend from -186 to +329 relative to the Pdh transcription start site. The start of Pdh-RA was used as the transcription start site for the mapping.

(Wang et al., 2010)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neurophysiology

(Katana et al., 2019)

abnormal neurophysiology | recessive

(Wang et al., 2010)

Phenotype Manifest In

abdominal lateral pentascolopidial chordotonal organ lch5 | third instar larval stage

(Katana et al., 2019)

Johnston organ | third instar larval stage

(Katana et al., 2019)

rhabdomere

(Wang et al., 2010)

Detailed Description

Statement

Reference

Pdh¹ animals exhibit defects in the function of abdominal lateral pentascolopidial chordotonal organ lch5 (in third instar larvae) and Johnston organ (in adults) mechanoreceptors compared to controls.

(Katana et al., 2019)

Pdh¹ flies exposed to a light/dark cycle undergo a progressive loss of rhabdomeres. Pdh¹ mutant flies start to lose rhabdomeres at about 10 days of age, and virtually no rhabdomeres corresponding to the R1-R6 photoreceptor cells remain after 30 days. The cell bodies also show an accumulation of prominent vacuoles, which is most notable in 40-day-old flies. Pdh¹ mutant flies maintained in the dark for 30 days do not show retinal degeneration indicating that this phenotype is strictly light dependent. The light-dependent retinal degeneration is not reversible.

Young (1-day-old) Pdh¹ mutant flies display deactivation afterpotential in electroretinogram recordings similar to wild-type.

After 7 days under a light/dark cycle, Pdh¹ mutant flies do not display deactivation afterpotential in electroretinogram recordings. In contrast, display deactivation afterpotential can be observed in Pdh¹ mutant flies maintained for 20 days in the dark.

The generation of retinols is disrupted in Pdh¹ mutant flies.

(Wang et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Pdh¹ has abnormal neurophysiology | recessive phenotype, suppressible by Scer\GAL4^rdhB.PW/Hsap\RDH12^UAS.cWa

(Wang et al., 2010)

Phenotype Manifest In

Suppressed by

Statement

Reference

Pdh¹ has rhabdomere phenotype, suppressible by Scer\GAL4^rdhB.PW/Hsap\RDH12^UAS.cWa

(Wang et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\RDH12^Scer\UAS.cWa under the control of Scer\GAL4^CG7077.PW in retinal pigment cells partially suppresses the Pdh¹ phenotype as measured in electroretinogram recordings. Deactivation afterpotential is generated in flies expressing Hsap\RDH12^Scer\UAS.cWa in retinal pigment cells even after 7 days under a 12 hour light/12 hour dark cycle, although they are reduced relative to wild-type. Expressing Hsap\RDH12^Scer\UAS.cWa in retinal pigment cells also diminishes the severity of the retinal degeneration in Pdh¹ flies.

(Wang et al., 2010)

Complementation and Rescue Data

Rescued by

Pdh¹ is rescued by Pdh^+tCH322-23P6

(Katana et al., 2019)

Pdh¹ is rescued by Pdh^+t1.5

(Wang et al., 2010)

Comments

The observed loss of deactivation afterpotential in electroretinogram recordings in older Pdh¹ mutant flies is rescued by Pdh^+t1.5.

(Wang et al., 2010)

Images (0)

Mutant

Wild-type

Stocks (2)

Bloomington

32077

w^*; P{Pdh^+t1.5}2; TI{TI}Pdh¹ st¹

58765

w^*; P{UAS-Pdh.myc}2, bw¹/CyO; TI{TI}Pdh¹ st¹/MKRS, Sb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Pdh¹

(Katana et al., 2019)

pdh¹

(Wang et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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