FB2024_03 , released June 25, 2024
Allele: Hsap\VPS35D620N.UAS
Open Close
General Information
Symbol
Hsap\VPS35D620N.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0316899
Feature type
allele
Associated gene
Hsap\VPS35
Associated Insertion(s)
Carried in Construct
PBac{UAS-Hsap\VPS35.D620N}
Key Links
Transgenic product class
missense_variant
(Malik et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Malik et al., 2015)
Mutagen
in vitro construct
(Malik et al., 2015)
Progenitor genotype
Carried in construct
PBac{UAS-Hsap\VPS35.D620N}
Cytology
Description

UASt regulatory sequences drive expression of mutant Hsap\VPS35 (D620N).

(Malik et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\VPS35
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  Parkinson's disease
      CEA with Vps35MH20, Vps35E42
      (Malik et al., 2015)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Parkinson's disease
      modeled by park25
      (Malik et al., 2015)
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Ubiquitous expression of a transgene containing a variant of human VPS35 linked to dominantly inherited Parkinson's disease (Hsap\VPS35D620N.Scer\UAS) in a wild type background does not result in dominant toxicity. Expression of Hsap\VPS35D620N.Scer\UAS in a Vps35 mutant background only partially rescues the locomotor phenotypes.

      (Malik et al., 2015)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Malik et al., 2015)
      VPS35:p.Asp620Asn
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: VPS35_30196
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Lifespan and motor ability are unaffected when Hsap\VPS35D620N.Scer\UAS is expressed under the control of Scer\GAL4da.PU at 25[o]C. Lifespan is moderately shortened compared with controls at 29[o]C.

      No overt eye phenotypes are observed when Hsap\VPS35D620N.Scer\UAS is expressed under the control of Scer\GAL4GMR.PU.

      (Malik et al., 2015)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Hsap\VPS35D620N.Scer\UAS under the control of Scer\GAL4da.PU at 25[o] fails to suppress the phenotypes seen in Vps35MH20/Vps35E42 mutant flies. Expressing Hsap\VPS35D620N.Scer\UAS at 29[o]C rescues mutant viability to the late pupal stage, but adults fail to eclose.

      Expression of Hsap\VPS35D620N.Scer\UAS under the control of Scer\GAL4da.PU at 29[o] suppresses the NMJ phenotypes seen in Vps35MH20/Vps35E42 mutant larvae.

      Expression of Hsap\VPS35D620N.Scer\UAS under the control of Scer\GAL4da.PU partially suppresses the larval locomotion defects seen in Vps35MH20/Vps35E42 mutants.

      Expression of Hsap\VPS35D620N.Scer\UAS under the control of Scer\GAL4da.PU suppresses the climbing defects and increased sensitivity to paraquat seen in park25 mutants.

      (Malik et al., 2015)
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\VPS35D620N.Scer\UAS
      Hsap\VPS35D620N.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)