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General Information
Symbol
Hsap\ATXN3fl.Q84.UAS.Tag:MYC
Species
H. sapiens
Name
FlyBase ID
FBal0196338
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
SCA3-Q84, UAS-flMJDCAG84
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 full-length Hsap\ATXN3 with a long polyQ repeat of Q84. The Hsap\ATXN3 sequence is tagged at the N-terminal end with Tag:MYC.

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

Adults expressing Hsap\ATXN3fl.Q84.UAS.Tag:MYC under the control of Scer\GAL4GMR.PU do not present any major eye defects.

Expression of Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PU leads to severe retinal degeneration, with a significant decrease in the number of rhabdomeres per ommatidium.

Expression of Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4elav.PU leads to decreased lifespan.

When Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC is expressed selectively in fly eyes under the control of Scer\GAL4GMR.PU, it does not greatly impact the external eye compared to wild-type controls. However, retinal sections show marked degeneration (disruption and loss of the radial ommatidial array and less-defined inter-ommatidial boundaries) and the presence of densely staining structures/aggregates, which contain pathogenic Hsap\ATXN3.

Expression of Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.long does not generate obvious external eye defects after 14 days, despite the eye undergoing internal degeneration at this time. There is ommatidial loss and the presence of aggregates/inclusions.

Eye-specific expression of Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC, under the control of Scer\GAL4GMR.long results in almost no alteration in the external eye structure.

Pan-neural expression of Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC (under the control of Scer\GAL4elav-C155) results in a shortened lifespan, accompanied by neurodegeneration.

Expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF results in a significant reduction in the number of rhabdomeres per ommatidium in newly eclosed flies compared to wild-type controls.

7 day old flies expressing Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PU have show strong vision defects in a phototaxis assay.

Expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC in the eye (under the control of Scer\GAL4GMR.PF) causes mild retinal degeneration.

Expression of Hsap\MJDQ84.Scer\UAS, under the control of Scer\GAL4elav-C155, induces progressive degeneration of photoreceptors, coupled with the formation of protein aggregates in 2-day old flies.

Expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF results in progressive adult-onset neural degeneration in the eye.

Flies expressing Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF are defective in phototaxis at 1 day after eclosion and are functionally blind by 4 days after eclosion. Co-expression of Hsap\MJDfl.Q27.Scer\UAS.T:Hsap\MYC restores a normal phototaxis response in 4 day old flies expressing Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF.

Co-expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC partially suppresses the eye degeneration phenotype caused by Hsap\MJDtr.Q78.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
NOT Enhanced by
Suppressed by
NOT Enhancer of
Other
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Suppressed by
NOT Enhancer of
Other
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Adults co-expressing Hsap\ATXN3fl.Q84.UAS.Tag:MYC together with either Cul1GD9650 or FipoQNIG.2010R, under the control of Scer\GAL4GMR.PU, display mild eye depigmentation; this phenotype is not further enhanced by the triple co-expression of Hsap\ATXN3fl.Q84.UAS.Tag:MYC, Cul1GD9650 and FipoQNIG.2010R.

Expression of Scer\GAL4GMR.PU>Rad23GD4245 markedly suppresses retinal degeneration caused by Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC-expression in fly eyes.

When Scer\GAL4GMR.PU>Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC is expressed in a Df(4)ED6369 hemizygous background, retinal degeneration is suppressed.

Reduction of Cdk5 transcript abundance, through the expression of Cdk5GD13840 in eyes expressing Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC (all transgenes under the control of Scer\GAL4GMR.long) causes a disturbed eye surface and a loss of pigmentation.

RNAi-mediated Cdk5 reduction in Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC-expressing flies (under the control of Scer\GAL4elav-C155) results in an almost 50% reduction of median survival compared to controls.

Co-expression of embNIG.13387R enhances the loss of rhabdomere phenotype caused by expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF. This enhancement is suppressed by co-expression of Hsap\HSPA1LScer\UAS.cWa.

Co-expression of embE128-1A suppresses the loss of rhabdomere phenotype caused by expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF.

Expression of Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC does not enhance the eye phenotypes seen when Atx2Scer\UAS.cSa is expressed in the developing eye under the control of Scer\GAL4GMR.PF.

Co-expression of Atx2Scer\UAS.cSa and Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC in differentiated photoreceptor neurons under the control of Scer\GAL4ninaE.PD enhances the visible photoreceptor loss seen when either construct is expressed alone. At 18-23 days only 2.9 photoreceptors are seen per ommatidium, as opposed to the seven seen in wild type. This compares to 6.3 and 6.97 in Atx2Scer\UAS.cSa and Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC respectively.

Co-expression of mrjE1050 or CG14207EP1348 strongly suppresses the defects in phototaxis seen in 7 day old flies expressing Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PU.

Flies co-expressing Atg5dsRNA.Scer\UAS and Hsap\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PU show loss of retinal integrity.

Eye degeneration due to expression of Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC in the eye (under the control of Scer\GAL4GMR.PF) is enhanced in a loqsf00791 background, resulting in dramatically reduced retinal thickness.

Co-expression of Hsap\VCPScer\UAS.cBa with Hsap\MJDQ84.Scer\UAS, both under the control of Scer\GAL4elav-C155, leads to a suppression of the Hsap\MJDQ84.Scer\UAS photoreceptor degeneration phenotype in 2-day old flies.

Complementation and Rescue Data
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\ATXN3fl.Q84.Scer\UAS.T:Hsap\MYC
Hsap\ATXN3fl.Q84.UAS.Tag:MYC
Hsap\MJDQ84.Scer\UAS
Hsap\MJDfl.Q84.Scer\UAS.T:Hsap\MYC
Name Synonyms
Secondary FlyBase IDs
    References (16)