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General Information
Symbol
Hsap\ATXN3tr.Q27.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0090631
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-MJDtr-Q27, UAS-SCA3tr-Q27, UAS-MJDtrQ27, UAS-SCA3trQ27
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

A truncated form of Hsap\ATXN3, consisting of the normal length glutamine tract (27 repeats) flanked upstream by 12 amino acids and downstream by the carboxy terminal 43 amino acids of Hsap\ATXN3, is expressed under the control of UASt regulatory sequences. The Hsap\ATXN3 protein is tagged at the N-terminal end with Tag:HA.

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

Adults expressing Hsap\ATXN3tr.Q27.UAS.Tag:HA under the control of Scer\GAL4GMR.PU do not present any major eye defects.

Flies expressing Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 using any one of the drivers Scer\GAL4GMR.PU, Scer\GAL4da.PU, or Scer\GAL4nrv2.PS appear morphologically and behaviorally normal.

The addition of 0-10mM LiCl to 1 day old Scer\GAL4nrv2.PS>Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 does not generate a remarkable difference in the locomotor ability compared to non-treated controls.

Larval ddaE neurons expressing Hsap\ATXN3tr.Q78.UAS.Tag:HA under the control of Scer\GAL4221 do not show significant changes in growing microtubules within dendrites, as compared to neurons in controls. Expression under the control of Scer\GAL4GMR.long does not induce any visible eye defect compared to controls.

Larvae expressing Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 in class IV da neurons under the control of Scer\GAL4ppk.PG do not exhibit any detectable dendritic abnormalities. Dendritic branching and complexity is similar to controls.

Expression of Hsap\MJDtr.Q27.Scer\UAS.T:Ivir\HA1 in the developing eye under the control of Scer\GAL4GMR.PF does not result in any significant structural defects in the eye.

Scer\GAL4elav-C155-driven expression of Hsap\MJDtr.Q27.Scer\UAS.T:Ivir\HA1 does not have any adverse effect on survival or longevity of flies.

Expression of Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 in the nervous system under the control of Scer\GAL4elav.PLu has no effect on the survival rate of flies during their development to adults.

Expression of Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PU does not cause degeneration or pigment loss in the adult eye.

Expression of Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4elav.PU, Scer\GAL4repo-M1B or Scer\GAL4Appl.G1a leads to a reduction in adult lifespan.

Expression of Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4repo-M1B, but not Scer\GAL4Appl.G1a, results in progressive neurodegeneration, with formation of vacuoles in the brain.

Flies expressing Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4Appl.G1a or Scer\GAL4repo-M1B exhibit a progressive deficit in phototaxis, but no defects in walking speed or activity, as compared to controls.

Co-expression of Hsap\MJDtr.Q27.Scer\UAS.T:Ivir\HA1 does not suppress the eye degeneration phenotype caused by Hsap\MJDtr.Q78.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF.

When driven in neurons no increase in apoptosis is seen.

Expression of Hsap\MJDQ27.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF has no effect on eye morphology.

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

Expression of Hsap\MJDtr.Q27.Scer\UAS.T:Ivir\HA1 and Mmus\PrnpP101L.Scer\UAS.T:Hsap\PRNP-3F4 in the developing eye under the control of Scer\GAL4GMR.PF does not result in any significant structural defects in the eye.

Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
Reported As
Symbol Synonym
Hsap\ATXN3tr.Q27.Scer\UAS.T:Ivir\HA1
Hsap\ATXN3tr.Q27.UAS.Tag:HA
Hsap\MJDQ27.Scer\UAS.T:Ivir\HA1
Hsap\MJDQ27.UAS.T:HA1
Hsap\MJDtr.Q27.Scer\UAS.T:Ivir\HA1
Name Synonyms
Secondary FlyBase IDs
    References (30)