FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Ecab\PRNPS167D.E168Q.UAS
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General Information
Symbol
Ecab\PRNPS167D.E168Q.UAS
Species
E. caballus
Name
FlyBase ID
FBal0343891
Feature type
allele
Associated gene
Ecab\PRNP
Associated Insertion(s)
Carried in Construct
P{UAS-EqPrP.S167D.E168Q}
Transgenic product class
missense_variant
(Sanchez-Garcia and Fernandez-Funez, 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Sanchez-Garcia and Fernandez-Funez, 2018)
Mutagen
in vitro construct
(Sanchez-Garcia and Fernandez-Funez, 2018)
Progenitor genotype
Carried in construct
P{UAS-EqPrP.S167D.E168Q}
Cytology
Description

UASt regulates expression of Ecab\PRNP bearing a S167D and E168Q mutations, which replace the predicted protective residues mediating the stability of the protein with the corresponding amino acids from Maur\Prp.

(Sanchez-Garcia and Fernandez-Funez, 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Ecab\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
      (Sanchez-Garcia and Fernandez-Funez, 2018)
      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.
      (Sanchez-Garcia and Fernandez-Funez, 2018)

      Horse gene.

      PRNP:p.Asp167Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant

      PRNP:p.Ser167 , found in horse and other species, postulated to be protective.

      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Ecab\PRNPS167D.E168Q.UAS induce a progressive decrease in climbing (under the control of Scer\GAL4BG380) and a decreased lifespan (under the control of Scer\GAL4da.PU), as compared to controls.

      Upon expression under the control of Scer\GAL4ey-OK107, adult mushroom body axonal lobes are normal at day 1, but by day 40 the dorsal and medial lobes show significant loss of volume (thinning of axonal lobes and the loss of the α lobe cap), as compared to controls; Kenyon cell clusters expand dramatically in older flies; which is not due to to the increase in the number of cells or to relocation of cells (flattening), but to the swelling of the cell bodies.

      (Sanchez-Garcia and Fernandez-Funez, 2018)
      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
      Ecab\PRNPS167D.E168Q.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)