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General Information
Symbol
Hsap\ATXN3tr.Q61.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0190838
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-SCA3trQ61, UAS-MJDtrQ61
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
 
 
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

The number of polyglutamines repeats is reduced to 61.

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 ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

One day old flies expressing Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF have a mild loss of pigmentation and slightly disrupted internal retinal morphology.

One day old flies expressing Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF show a mild loss of pigmentation and retinal structure.

Expression of Hsap\MJDQ61.Scer\UAS, under the control of Scer\GAL4GMR.PF, causes cell death and pigment loss in the fly eye.

Expression of Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PU results in a mild eye degeneration phenotype.

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

One copy of mblB2-E1 enhances the eye degeneration phenotype seen in one day old flies when Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1 is expressed in the developing eye under the control of Scer\GAL4GMR.PF. Flies show severe external degeneration and collapse of the retina.

Co-expression of Kdm2EP3093 severely enhances pigment loss and internal retinal degeneration flies expressing Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PU.

Eye degeneration due to expression of Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1 in the eye (under the control of Scer\GAL4GMR.PF) is enhanced in a Dcr-1Q1147X background, resulting in a severely degenerated eye with complete loss of pigmentation.

The cell death and pigment loss that occurs in the eyes of Scer\GAL4GMR.PF>Hsap\MJDQ61.Scer\UAS flies is enhanced in flies that have reduced Hsp70 copy number. The severity of the phenotype is proportional to the Hsp70 copy number, Df(3R)Hsp70A, Df(3R)Hsp70B, Scer\GAL4GMR.PF>Hsap\MJDQ61.Scer\UAS flies show the most severe phenotype, Df(3R)Hsp70A, Hsp70Ba304, Scer\GAL4GMR.PF>Hsap\MJDQ61.Scer\UAS flies show a slightly less enhanced phenotype and Df(3R)Hsp70A, Scer\GAL4GMR.PF>Hsap\MJDQ61.Scer\UAS flies show the mildest enhancement.

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 (4)
Reported As
Symbol Synonym
Hsap\ATXN3Q61.Scer\UAS
Hsap\ATXN3tr.Q61.Scer\UAS.T:Ivir\HA1
Hsap\ATXN3tr.Q61.UAS.Tag:HA
Hsap\MJDQ61.Scer\UAS
Name Synonyms
Secondary FlyBase IDs
    References (8)