FB2025_01 , released February 20, 2025
Allele: Hsap\APPDut40.Tag:SS(rPENK)
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General Information
Symbol
Hsap\APPDut40.Tag:SS(rPENK)
Species
H. sapiens
Name
FlyBase ID
FBal0344962
Feature type
allele
Associated gene
Hsap\APP
Associated Insertion(s)
Carried in Construct
P{UAS-Aβ.Dut40}
Key Links
Transgenic product class
Mutagen
Nature of the Allele
Transgenic product class
Mutagen
in vitro construct
(Yamasaki et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-Aβ.Dut40}
Cytology
Description

UASt regulates expression of a cDNA encoding the the Dutch-type Aβ40/E22Q mutation, derived from Hsap\APP, fused to the rat pre-proenkephalin signal peptide (Tag:SS(rPENK)).

(Yamasaki et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\APP
Tagged with
Tag:SS(rPENK)
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 1
      CEC
      (Yamasaki et al., 2018)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      FlyBase curator comment: "Alzheimer's disease 1" is associated with mutations in human amyloid precursor protein.

      (Yamasaki et al., 2018)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Yamasaki et al., 2018)

      This construct carries the amyloid Aβ42 peptide; variant described relative to the full-length protein and in terms of the Aβ42 peptide.

      APP:p.Glu693Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      APP:p.Glu618Gln
      APP(Aβ42 peptide):p.Glu22Gln
      Associated human disease model(s)
      External database links
      ClinVar: APP_18087
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      Complementation and Rescue Data
      Comments
      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
      Hsap\APPDut40.Tag:SS(rPENK)
      Hsap\APPTag:SS(rPENK)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)