FB2024_03 , released June 25, 2024
Allele: Hsap\KCNS2D379E.UAS
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General Information
Symbol
Hsap\KCNS2D379E.UAS
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Smith
FlyBase ID
FBal0341192
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

UAS regulatory sequences drive expression of Hsap\KCNS2 with a D379E mutation (relevant to essential tremor in humans).

Allele components
Component
Use(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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
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.
KCNS2:p.Asp379Glu
Variants Synonym(s)
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Adults expressing Hsap\KCNS2D379E.UAS under the control of Scer\GAL4elav-C155 do not show any apparent gross morphological defect, as compared to controls. This expression throughout development and adulthood, or only during adulthood (by using Gal80[ts] for the temporal control of expression), leads to a high proportion of individuals showing an abnormal wing posture and results in increased locomotor capacity in climbing assays, as compared to controls. This expression only during adulthood, but not throughout development and adulthood, leads to a small but significant decrease in lifespan, as compared to controls.

The expression of Hsap\KCNS2D379E.UAS under the control of either Scer\GAL4P2.4.Pdf or Scer\GAL4tim.PE leads to a significant decrease in night-time sleep (and concurrent significant increase in night-time activity), although it does not affect the circadian period and rhythmicity, as compared to controls. The expression of Hsap\KCNS2D379E.UAS under the control of Scer\GAL4P2.4.Pdf also induces an alteration in the kinetics of the Shab current in adult l-LNv neuron, namely a shift in activation to more negative voltages and a reduced Shab current after 200ms of depolarization, and induces a significant increase in the spontaneous firing rate of Shab currents in adult clock neurons, as compared to controls.

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 (2)
Reported As
Symbol Synonym
Hsap\KCNS2D379E.UAS
Name Synonyms
Saccharomyces cerevisiae UAS construct a of Smith
Secondary FlyBase IDs
    References (2)