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General Information
Symbol
Hsap\HTTQ20.ex1.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0127293
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-Httex1p-Q20, UAS-htt exon-1-Q20, UAS-20Q, P{UAS-Httex1p Q20}, UAS-Htt exon1-Q20, UAS-httex1p Q20, Htt20Q
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 sequences drive expression of Hsap\HTT exon 1 with a polyglutamine repeat of 20 residues.

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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\HTTQ20.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 does not induce photoreceptor neurodegeneration in the adult eye at 7 days post-eclosion.

Flies expressing Scer\GAL4elav-C155>Hsap\HTTQ20.ex1p.Scer\UAS do not show premature death. The survival curve of the Hsap\HTTQ20.ex1p.Scer\UAS-transgenic flies is similar to that of wild-type.

The end-systolic diameter (ESD) and end-diastolic diameter (EDD) of 5-day old and 19-day old flies expressing Hsap\HTTQ20.ex1p.Scer\UAS under the control of Scer\GAL4Hand.ΔVM.Switch (limited to the adult stages using 100ug/ml RU486) are similar to controls.

Larval ddaE neurons expressing Hsap\HTTQ20.ex1.UAS under the control of Scer\GAL4221 do not show significant changes in growing microtubules within dendrites, as compared to neurons in controls.

Flies expressing Hsap\HTTQ20.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 show similar evoked excitatory junction potential (eEJP) amplitudes recorded at the third instar larval neuromuscular junction at 0.6 or 1.5 mM Ca[2+] concentrations to controls. Miniature excitatory junction potential m(EJP) amplitude distribution are similar to controls.

Expression of Hsap\HTTQ20.ex1p.Scer\UAS under the control of Scer\GAL4elav-C155 results in an increase in the 3-hydroxykynurenine (3-HK)/kynurenic acid (KYNA) ratio as compared to controls. No rhabdomere degeneration is observed.

Scer\GAL4elav-C155-driven expression of Hsap\HDQ20.ex1p.Scer\UAS does not have any adverse effect on survival or longevity of flies.

Scer\GAL4repo Hsap\HTTQ20.ex1p.Scer\UAS flies show normal motor activities (negative geotaxis assay) at day 7.

No visible aggregates are observed when Hsap\HDQ20.ex1p.Scer\UAS is expressed under the control of Scer\GAL4ninaE.PD.

Co-expression of Hsap\HDQ20.ex1p.Scer\UAS with Hsap\HDQ93.ex1p.Scer\UAS under the control of Scer\GAL4ninaE.PD results in an increase of cells with nuclear inclusions at days 5 and 6, compared to expression of just Hsap\HDQ93.ex1p.Scer\UAS alone. By day 10, almost all cell nuclei in flies expressing both Hsap\HDQ20.ex1p.Scer\UAS and Hsap\HDQ93.ex1p.Scer\UAS contain inclusions.

Flies expressing Hsap\HTTQ20.ex1p.Scer\UAS under the control of Scer\GAL4Eaat1.PR show no behavioural defects and have a normal lifespan.

Expression of Hsap\HDQ20.ex1p.Scer\UAS at 25oC, under the regulation of Scer\GAL4elav-C155 does not affect the survival rate. Hsap\HD aggregates are never detected in flies expressing the non-pathogenic Hsap\HDQ20.ex1p.Scer\UAS transgene (under the control of Scer\GAL4elav-C155.

When Hsap\HDQ20.ex1p.Scer\UAS is driven by Scer\GAL4Appl.G1a or Scer\GAL4179Y apparently normal neurons are seen. Overexpression of Hsap\HDQ20.ex1p.Scer\UAS has no effect on cell death in neurons.

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

Co-expression of Hsap\HDQ20.ex1p.Scer\UAS with Hsap\HDQ93.ex1p.Scer\UAS under the control of Scer\GAL4ninaE.PD results in an increase of cells with nuclear inclusions at days 5 and 6, compared to expression of just Hsap\HDQ93.ex1p.Scer\UAS alone. By day 10, almost all cell nuclei in flies expressing both Hsap\HDQ20.ex1p.Scer\UAS and Hsap\HDQ93.ex1p.Scer\UAS contain inclusions.

Co-expression of Hsap\HDQ20.ex1p.Scer\UAS with Hsap\HDQ93.ex1p.Scer\UAS under the control of Scer\GAL4ninaE.PD increases the speed and severity of neuronal degeneration compared to expression of Hsap\HDQ93.ex1p.Scer\UAS alone (under the control of Scer\GAL4ninaE.PD), with an average of only 4.7 rhabdomeres per ommatidium remaining.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
Reported As
Symbol Synonym
Hsap\HDQ20.ex1p.Scer\UAS
Hsap\HTTQ20.ex1.Scer\UAS
Hsap\HTTQ20.ex1.UAS
Hsap\HTTQ20.ex1p.Scer\UAS
Name Synonyms
Secondary FlyBase IDs
    References (24)