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General Information
Symbol
Hsap\HTT128Q.1-208.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0249418
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

UAS drives expression of the N-terminal amino acids 1-208 of Hsap\HTT protein with a pathogenic polyQ tract of 128 amino acids.

Allele components
Product class / Tool use(s)
Encoded product / tool
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 ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

Sleep disturbances are a clinical feature of Huntington's Disease. Flies expressing Hsap\HTT128Q.1-208.Scer\UAS pan-neuronally show fragmentation of nighttime sleep.

Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Flies (recordings starting at 12 hours old) with expression of Hsap\HTT128Q.1-208.Scer\UAS driven by Scer\GAL4elav.PU show a persistent decrease in night-time sleep and a significant increase in sleep latency within 4 days, compared to controls; sleep is more fragmented, with significant decreases in the average duration of sleep bouts during the day and night, and flies show persistent night-time hyperactivity compared to controls by 5 days. Scer\GAL4elav.PU > Hsap\HTT128Q.1-208.Scer\UAS flies show disturbed sleep homeostasis: after 12 hours of night-time sleep deprivation, flies have significantly decreased daytime sleep recovery compared to controls and show significant depression of night-time sleep; post sleep deprivation, night-time sleep is not consolidated as in controls, with significantly lower average bout duration and significantly more bouts. Scer\GAL4elav.PU > Hsap\HTT128Q.1-208.Scer\UAS flies do not show significant changes in geotactic behavior compared to controls. Sleep deprivation causes 10-20% lethality in mutants. Position of the Hsap\HTT128Q.1-208.Scer\UAS insertion affects the severity of sleep phenotypes (F27B weaker, M64 stronger).

Expression of Hsap\HTT128Q.1-208.Scer\UAS (weaker F27B insertion) driven by Scer\GAL4elav-C155 results in 85% lethality during metamorphosis; there is 100% (including earlier) lethality with the stronger M64 insertion.

Expression of Hsap\HTT128Q.1-208.Scer\UAS (in the stronger M64 but not the weaker F27B insertion) driven by Scer\GAL4elav.PU leads to significant impairment of olfactory avoidance memory after three cycles of massed training, compared to controls; both insertions show normal learning.

Expression of Hsap\HTT128Q.1-208.Scer\UAS (in both M64 and F27B) leads to a significantly shorter lifespan than controls.

Flies expressing Hsap\HTT128Q.1-208.Scer\UAS under the control of Scer\GAL4elav.PU show an increase in total daytime sleep and a decrease in total nighttime sleep within the first 5 days after eclosion compared to controls. The increase in daytime sleep is due to an increased number of sleep bouts without a significant change in duration. Nighttime sleep in these flies is fragmented compared to controls (there is an increased number of shorter sleep bouts). Activity is significantly reduced across the light:dark cycle in the mutant flies, including at light:dark transitions. These individuals also exhibit a significant decrease in adult lifespan, as compared to controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
NOT suppressed by
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Co-expression of Pka-R2GD15709 does not suppress lethality in flies with expression of Hsap\HTT128Q.1-208.Scer\UAS driven by Scer\GAL4elav-C155 (either the weak F27B or strong M64 insertion). Co-expression of Pka-C2KK110127 suppresses lethality in flies with expression of Hsap\HTT128Q.1-208.Scer\UAS driven by Scer\GAL4elav-C155 (both the weak F27B or strong M64 insertions), partially suppresses sleep homeostasis phenotypes (both insertions, expression driven by Scer\GAL4elav.PU) and significantly partially suppresses memory defects in the M64 line (expression driven by Scer\GAL4elav.PU). Co-expression of Pka-C1KK108966 suppresses lethality in flies with expression of Hsap\HTT128Q.1-208.Scer\UAS driven by Scer\GAL4elav-C155 (only delays lethality with the strong M64 insertion), and suppresses sleep phenotypes (tested F27B) (expression driven by Scer\GAL4elav.PU). Co-expression of Pka-R1BDK.Scer\UAS suppresses lethality in flies with expression of Hsap\HTT128Q.1-208.Scer\UAS driven by Scer\GAL4elav-C155 (only tested weak F27B insertion), and suppresses sleep and sleep homeostasis phenotypes (tested F27B) (expression driven by Scer\GAL4elav.PU). Co-expression of Pka-C1KK108966 or Pka-C2KK110127 significantly suppresses the shorter lifespan seen in Scer\GAL4elav.PU>Hsap\HTT128Q.1-208.Scer\UAS (F27B) flies; co-expression of Pka-C2KK110127 also suppresses the shorter lifespan seen in the M64 line.

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\HD128Q.1-208.Scer\UAS
Hsap\HTT128Q.1-208.Scer\UAS
Hsap\HTT128Q.1-208.UAS
Name Synonyms
Secondary FlyBase IDs
    References (3)