FB2025_05 , released December 11, 2025
Allele: Hsap\PRNPV129.D167S.UAS
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General Information
Symbol
Hsap\PRNPV129.D167S.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0374705
Feature type
allele
Associated gene
Hsap\PRNP
Associated Insertion(s)
Carried in Construct
P{UAS-hPRNP.V129.D167S}
Key Links
Transgenic product class
missense_variant
(Myers et al., 2022)
polymorphic_sequence_variant
(Myers et al., 2022)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Myers et al., 2022)
polymorphic_sequence_variant
(Myers et al., 2022)
Mutagen
in vitro construct
(Myers et al., 2022)
Progenitor genotype
Carried in construct
P{UAS-hPRNP.V129.D167S}
Cytology
Description

UAS regulates expression of Hsap\PRNP, codon-optimized for Drosophila. The coding sequence carries the V129 polymorphism and also contains the D167S amino acid replacement.

(Myers et al., 2022)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\PRNP
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  prion disease
      CEA
      (Myers et al., 2022)
      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
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Hsap\PRNPV129.D167S.UAS under the control of Scer\GAL4GMR.PU induces a mildly disorganized eye, with disorganized ommatidia.

      The expression of one copy of Hsap\PRNPV129.D167S.UAS under the control of Scer\GAL4ey-OK107 induces defects in the adult mushroom body: One-day-old flies exhibit thinner axonal projections; by day 40, there is decreased axon projection coverage and widespread membrane blebbing.

      (Myers et al., 2022)
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\PRNPV129.D167S.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (1)