FB2025_01 , released February 20, 2025
Allele: Hsap\PFN1C71G.UAS.Tag:V5
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General Information
Symbol
Hsap\PFN1C71G.UAS.Tag:V5
Species
H. sapiens
Name
FlyBase ID
FBal0327365
Feature type
allele
Associated gene
Hsap\PFN1
Associated Insertion(s)
Carried in Construct
P{UAS-hPFN1.C71G.V5}
Key Links
Transgenic product class
missense_variant
(Wu et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Wu et al., 2017)
Mutagen
in vitro construct
(Wu et al., 2017)
Progenitor genotype
Carried in construct
P{UAS-hPFN1.C71G.V5}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\PFN1 with an ALS-causative mutation (C71G), tagged at the N-terminal with Tag:V5.

(Wu et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\PFN1
Tagged with
Tag:V5
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  amyotrophic lateral sclerosis
      CEA
      (Wu et al., 2017)
      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.
      (Wu et al., 2017)
      PFN1:p.Cys71Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: PFN1_37034
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\PFN1C71G.Scer\UAS.T:SV5\V5 under the control of Scer\GAL4VGlut-OK371 does not lead to formation of insoluble aggregates in larval ventral nerve cord and neither does it alter the number or size of major boutons on larval neuromuscular junctions, it does however lead to increased number of ghost boutons (non-functional synapses lacking active zones and post-synaptic markers) and reduced number of satellite boutons, as compared to controls. The Hsap\PFN1C71G.Scer\UAS.T:SV5\V5 expression does not affect the number of brp puncta in the synaptic area but it leads to formation of abnormal F-actin enriched filopodia at NMJs. Although no defects in locomotion are observed at the larval stage, adults flies display strong age-progressive loss of climbing abilities and reduced survival rate.

      Scer\GAL4GMR.PU-driven expression of Hsap\PFN1C71G.Scer\UAS.T:SV5\V5 does not induce eye degeneration and rough eye phenotype.

      (Wu et al., 2017)
      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

      The pupal lethality of animals expressing chicHMS00550 under the control of Scer\GAL4VGlut-OK371 can be rescued by co-expression of Hsap\PFN1C71G.Scer\UAS.T:SV5\V5.

      (Wu et al., 2017)
      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\PFN1C71G.Scer\UAS.T:SV5\V5
      Hsap\PFN1C71G.UAS.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)