FB2026_02 , released June 18, 2026
Allele: Dmel\PsnA246E.PEPC.L
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General Information
Symbol
Dmel\PsnA246E.PEPC.L
Species
D. melanogaster
Name
FlyBase ID
FBal0193479
Feature type
allele
Associated gene
Dmel\Psn
Associated Insertion(s)
Carried in Construct
P{PEPC-Psn.A246E}
Key Links
Transgenic product class
missense_variant
(Seidner et al., 2006)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Seidner et al., 2006)
Mutagen
in vitro construct
(Seidner et al., 2006)
Progenitor genotype
Carried in construct
P{PEPC-Psn.A246E}
Cytology
Description

A 1.5kb Psn promoter regulatory sequence (PEPC - Psn endogenous promoter cassette) drives expression of the longer isoform of Psn, mutated to carry an amino acid substitution that is equivalent to a A246E mutation in the orthologous human PSEN1 gene, a variant associated with familial Alzheimer disease.

(Seidner et al., 2006)
Allele components
Component
Use(s)
Regulatory region(s)
Psn
Encoded product / tool
Psn
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 ( 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.
      (Seidner et al., 2006)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The vast majority of PsnA246E.PEPC.L flies exhibit neurogenic defects, ranging from mild to severe, manifesting as a rough eye phenotype, wing notching, and abnormal thoracic bristle patterning. A number of these flies die at the late prepupal or pupal stage.

      (Seidner et al., 2006)
      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
      Comments
      Comments

      Based on statistical analysis of the age of onset and the severity of the phenotype, the following Psn alleles can be ranked in the following order, from strongest to weakest: PsnL166P.PEPC.L = PsnL173W.PEPC.L = PsnP436Q.PEPC.L = PsnV272A.PEPC.L = PsnL235P.PEPC.L > PsnM146L.PEPC.L = PsnM139V.PEPC.L = PsnH163R.PEPC.L = PsnE280A.PEPC.L = PsnA246E.PEPC.L = PsnG206A.PEPC.L > PsnA79V.PEPC.L = PsnF175S.PEPC.L = PsnE318G.PEPC.L.

      (Seidner et al., 2006)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      PsnA246E.PEPC.L
      Name Synonyms
      Secondary FlyBase IDs
        References (1)