FB2024_03 , released June 25, 2024
Allele: Hsap\HTT171aa.138Q.UAS.Tag:HA
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General Information
Symbol
Hsap\HTT171aa.138Q.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0294801
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Progenitor genotype
Carried in construct
Cytology
Description

UASt regulatory sequences drive expression of the N-terminal 171 amino acids of Hsap\HTT with 138 glutamine repeats and tagged with Tag:HA.

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 ( 1 )
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.
HTT:p.Gln18[138]
Variants Synonym(s)
HTT:p.Gln18[138Gln]
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 end-systolic diameter (ESD) and end-diastolic diameter (EDD) of 5-day old flies expressing Hsap\HTT171aa.138Q.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Hand.ΔVM.Switch (limited to the adult stages using 100ug/ml RU486) are increased compared to controls. The ESD and EDD are both significantly increased at 19 days.

When flies expressing Hsap\HTT171aa.138Q.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Hand.ΔVM.Switch are raised on medium containing 2ug/ml RU486, adults are produced that have measurable dilated hearts at 5 and 19 days. Increases in ESD and EDD are seen. No heart dilatation is seen at 5 days in flies submitted to 20ng/ml RU treatment, but these flies show prominent heart impairment at 19 days. Feeding the flies methylene blue along with RU486 significantly rescues the heart dilatation at 5 days. At 19 days the ESD is significantly reduced but EDD is unchanged.

Flies expressing Hsap\HTT171aa.138Q.Scer\UAS.T:Ivir\HA1 either in neurons under the control of Scer\GAL4Appl.PU or in glia under the control of Scer\GAL4repo.PU show a strong deficit in mean lifespan compared to controls. This reduction in lifespan is not rescued by feeding the flies Methylene Blue, and is aggravated when Hsap\HTT171aa.138Q.Scer\UAS.T:Ivir\HA1 is expressed in neurons.

Expression of Hsap\HTT171aa.138Q.Scer\UAS.T:Ivir\HA1 in developing eyes under the control of Scer\GAL4GMR.PF leads to adults with a loss of eye pigmentation and a rough eye phenotype. The rough eye phenotype is correlated with abnormal ommatidial arrays as detected by scanning electron microscopy.

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\HTT171aa.138Q.Scer\UAS.T:Ivir\HA1
Hsap\HTT171aa.138Q.UAS.Tag:HA
Name Synonyms
Secondary FlyBase IDs
    References (4)