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General Information
Symbol
Hsap\HTTQ46.ex1p.UAS.EGFP
Species
H. sapiens
Name
FlyBase ID
FBal0294196
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
Httex1-Q46-eGFP, UAS-Httex1-Q46-eGFP
Key Links
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

UASt regulatory sequences drive expression of Hsap\HTT exon 1 containing a 46 residue expanded polyQ tract. The protein is tagged at the C-terminal end with EGFP.

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 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
 

Aggregates form in the eyes of flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4GMR.PF. Fewer aggregates are observed after treatment with compounds SEN177 and SEN180.

Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
HTT:p.Gln18[46]
Variants Synonym(s)
HTT:p.Gln18[46Gln]
HTT, (CAG)n REPEAT EXPANSION
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

The expression of Hsap\HTTQ46.ex1p.UAS.EGFP under the control of Scer\GAL4P2.4.Pdf does not seem to have a major effect on circadian behavior, nor on the number of sLNv neurons.

Aggregates form in the eyes of aged flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

Expression of Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand results in a small but significant decrease in lifespan compared to controls.

3 week old flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand show a significant increase in systolic diameter, diastolic diameter, systolic interval, diastolic interval and cardiac arrhythmia compared to controls. Fractional shortening is significantly decreased. In addition morphological defects such as non-beating hearts, hearts with non-contractile regions and defective ostia are seen.

Myocardial cells of 4 week old flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4HCH.Hand show myofibrillar degeneration and severe mitochondrial fragmentation.

Flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4GMR.PU show age-dependent formation of Hsap\HTT protein aggregates in the eye.

Flies expressing Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP under the control of Scer\GAL4elav.PU show age-dependent formation of Hsap\HTT protein aggregates in the brain.

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

Co-expression of CalpAKK104532 results in a clear reduction in the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

Co-expression of CalpANIG.7563R results in a clear reduction in the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

Co-expression of CalpANIG.18152R results in a clear reduction in the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

Co-expression of CalpAKK104532 in an Atg8aKG07569 mutant genetic background fails to reduce the number of aggregates observed in the eyes of flies expressing Scer\GAL4GMR.PF>Hsap\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP.

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\HTTQ46.ex1p.Scer\UAS.T:Avic\GFP-EGFP
Hsap\HTTQ46.ex1p.UAS.EGFP
Name Synonyms
Secondary FlyBase IDs
    References (7)