FB2024_03 , released June 25, 2024
Allele: Dmel\Pink1G426D.UAS.Tag:HA
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General Information
Symbol
Dmel\Pink1G426D.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0285316
Feature type
allele
Associated gene
Dmel\Pink1
Associated Insertion(s)
Carried in Construct
P{UAS-Pink1.G426D.HA}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Song et al., 2013)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Song et al., 2013)
Mutagen
in vitro construct
(Song et al., 2013)
Progenitor genotype
Carried in construct
P{UAS-Pink1.G426D.HA}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of Pink1 in which the glycine at amino acid 426 has been replaced by aspartic acid. The construct is tagged with a Tag:HA epitope.

(Song et al., 2013)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Pink1
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:6,685,960..6,685,960 [+]
Comment:

Analogous mutation in human PINK1 implicated in Parkinson disease 6; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Song et al., 2013)
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)
       
      This allele represents a human variant implicated in disease.
      (Song et al., 2013)
      PINK1:p.Gly309Asp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: PINK1_2404
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Pink1G426D.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Act.PU in clones within mosaic midguts during pupariation results in no significant changes in the relative mitochondrial content of enterocytes, as compared to non-clone enterocytes.

      (Liu et al., 2016)

      Flies expressing Pink1G426D.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF exhibit a rough eye phenotype and disarrayed ommatidia.

      (Song et al., 2013)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      NOT Enhanced by
      NOT suppressed by
      Phenotype Manifest In
      NOT Enhanced by
      Statement
      Reference

      Pink1G426D.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, non-enhanceable by parkUAS.Tag:MYC, Scer\GAL4GMR.PF

      (Song et al., 2013)
      NOT suppressed by
      Statement
      Reference

      Pink1G426D.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, non-suppressible by parkUAS.Tag:MYC, Scer\GAL4GMR.PF

      (Song et al., 2013)
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Expression of parkScer\UAS.T:Hsap\MYC has no effect on the rough eye phenotype seen when Pink1G426D.Scer\UAS.T:Ivir\HA1 is expressed under the control of Scer\GAL4GMR.PF.

      (Song et al., 2013)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Partially rescues

      Pink1G426D.UAS.Tag:HA/Scer\GAL4hs.PB partially rescues Pink1B9

      (Song et al., 2013)
      Comments

      Expressing Pink1G426D.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4hs.PB rescues the crushed thorax and downturned wing phenotypes seen in Pink1B9 mutant flies at three days post-eclosion. The mitochondrial defects, reduction in ATP levels and flightlessness are also suppressed. However expression of Pink1G426D.Scer\UAS.T:Ivir\HA1 fails to rescue the phenotypes seen in 45 day old Pink1B9 mutant flies; as in Pink1B9 alone, the flies have downturned wings, the thoracic muscles contain abnormally swollen mitochondria between sparse muscle fibres, ATP levels are reduced and the flies are unable to fly. The loss of dopaminergic neurons seen in Pink1B9 is also still present.

      (Song et al., 2013)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Pink1G426D.Scer\UAS.T:Ivir\HA1
      Pink1G426D.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (3)