FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\KCNC3R420H.UAS
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General Information
Symbol
Hsap\KCNC3R420H.UAS
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Gallego-Iradi
FlyBase ID
FBal0305162
Feature type
allele
Associated gene
Hsap\KCNC3
Associated Insertion(s)
Carried in Construct
P{UAS-KCNC3.R420H}
Key Links
Transgenic product class
missense_variant
(Gallego-Iradi et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Gallego-Iradi et al., 2014)
Mutagen
in vitro construct
(Gallego-Iradi et al., 2014)
Progenitor genotype
Carried in construct
P{UAS-KCNC3.R420H}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of Hsap\KCNC3 carrying amino acid substitution R420H and optimized translation initiation site for expression in flies..

(Gallego-Iradi et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\KCNC3
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  autosomal dominant cerebellar ataxia
      CEA
      (Gallego-Iradi et al., 2014)
      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.
      (Gallego-Iradi et al., 2014)
      KCNC3:p.Arg420His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: KCNC3_13473
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\KCNC3R420H.Scer\UAS under the control of Scer\GAL4da.PU results in abnormal wing vein development, including the loss of the anterior crossvein, thickening of longitudinal veins L2 and L3, a distorted posterior crossvein, and partial loss of L5.

      Expression of Scer\GAL4GMR.PU>Hsap\KCNC3R420H.Scer\UAS results in small perturbations of the eye, including multiple fused ommatidia and disruption of the normal lattice organization. Aberrant differentiation of photoreceptor cells and abnormal polarity are observed in the mutant eyes.

      (Gallego-Iradi et al., 2014)
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\KCNC3R420H.Scer\UAS
      Hsap\KCNC3R420H.UAS
      Name Synonyms
      Saccharomyces cerevisiae UAS construct a of Gallego-Iradi
      Secondary FlyBase IDs
        References (2)