FB2025_01 , released February 20, 2025
Allele: Hsap\APPV717F.LOND.UAS
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General Information
Symbol
Hsap\APPV717F.LOND.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0130996
Feature type
allele
Associated gene
Hsap\APP
Associated Insertion(s)
Carried in Construct
P{UAS-APP.V717F.LOND}
Key Links
Transgenic product class
missense_variant
(Gunawardena and Goldstein, 2001)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Gunawardena and Goldstein, 2001)
Mutagen
in vitro construct
(Gunawardena and Goldstein, 2001)
Progenitor genotype
Carried in construct
P{UAS-APP.V717F.LOND}
Cytology
Description

UASt sequences drive expression of the London mutant form of Hsap\APP (this variant carries the amino acid replacement V717F).

(Gunawardena and Goldstein, 2001)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\APP
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  Alzheimer's disease
      CEA
      (Gunawardena and Goldstein, 2001)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Alzheimer's disease
      is exacerbated by Khc8
      (Gunawardena and Goldstein, 2001)
      is ameliorated by roblK
      (Gunawardena and Goldstein, 2001)
      is exacerbated by Klc8ex94
      (Gunawardena and Goldstein, 2001)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Gunawardena and Goldstein, 2001)
      APP:p.Val717Phe
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      APP:p.Val642Phe
      Associated human disease model(s)
      External database links
      ClinVar: APP_18089
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      When Hsap\APPV717F.LOND.Scer\UAS is driven by Scer\GAL4Appl.G1a or Scer\GAL4179Y an accumulation of organelles is seen in larval axons (about 40 clogs per 50μm). When Hsap\APPV717F.LOND.Scer\UAS is driven by Scer\GAL4Appl.G1a, apoptosis is seen in the larval brain.

      (Gunawardena and Goldstein, 2001)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Suppressed by
      Enhancer of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The organelle clogging phenotype seen in mutant larvae (Driven by Scer\GAL4Appl.G1a) is suppressed by the addition of roblK/+. The apoptosis phenotype seen in Hsap\APPV717F.LOND.Scer\UAS, Scer\GAL4Appl.G1a animals is enhanced by the addition of Khc8 or Klc8ex94. The apoptosis phenotype seen in Hsap\APPV717F.LOND.Scer\UAS, Scer\GAL4Appl.G1a animals is enhanced by the addition of roblK or Df(3L)GN24.

      (Gunawardena and Goldstein, 2001)
      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\APPV717F.LOND.Scer\UAS
      Hsap\APPV717F.LOND.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)