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General Information
Symbol
Hsap\ATXN8OSCTG112.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0156378
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
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

UAS regulatory sequences drive expression of exons D, C3, C2 and A of a Hsap\ATXN8OS cDNA. This construct contains a pathogenic, expanded configuration of CTG repeats which has the configuration CTA3CTG5CCG3CTG112.

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
is exacerbated by staury9
is exacerbated by mblE16
is exacerbated by ttvk11904
is exacerbated by stau2
is exacerbated by mblk07103
is ameliorated by hrgk07619
is exacerbated by pxk08316
is ameliorated by Psck07834
is exacerbated by stau1
is exacerbated by mblk01212
is exacerbated by spenAH393
is ameliorated by atmsrK509
is ameliorated by wcdk07824
is exacerbated by mblE27
is ameliorated by S6k07084
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\ATXN8OSCTG112.Scer\UAS under the control of Scer\GAL4GMR.PU results in disorganization of the ommatidial array in adult eyes associated with neurodegeneration (irregular and disarrayed axonal projections in the optic nerve as well as increased cell death of the developing photoreceptor neurons in third instar larval eye discs). This ectopic expression also induces the formation of toxic RNAi foci containing the mutant transcript in the nucleus and to a lesser extent also the cytoplasm of larval eye disc cells.

Scer\GAL4Mhc.F3-580-driven expression of Hsap\ATXN8OSCTG112.Scer\UAS leads to age-progressive wing posture (drooped wings, which in time result in held-up wing phenotype) and climbing ability defects in adult flies.

Expression of Hsap\SCA8CTG112.Scer\UAS under the control of Scer\GAL4GMR.PF results in disorganisation of the ommatidia and mechanosensory bristles of the eye, with the central portion of the eye being most severely affected. The penetrance of the phenotype is variable. The retina of 1- to 2-day old flies expressing Hsap\SCA8CTG112.Scer\UAS under the control of Scer\GAL4GMR.PF shows mild disorganisation with a loss of photoreceptor neurons and pigment cells. This retinal degeneration becomes progressively more severe as the flies age, with photoreceptor neurons becoming rod shaped and fragmented, resulting in vacuole formation. The recruitment and differentiation of photoreceptor neurons in larval eye discs expressing Hsap\SCA8CTG112.Scer\UAS under the control of Scer\GAL4GMR.PF appears to be normal, with degeneration of the photoreceptors appearing to begin during the pupal stages.

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

The disorganization of the adult eye ommatidial lattice, disarrayed axonal projection in the optic nerve along with the increased cell death of developing photoreceptors and formation of nuclear as well as cytoplasmic toxic RNAi foci in larval eye discs characteristic for flies expressing Hsap\ATXN8OSCTG112.Scer\UAS under the control of Scer\GAL4GMR.PU is significantly improved by co-expression of either spoonUAS.Tag:HA or spoonKH.UAS.Tag:HA but not spoonTudor.UAS.Tag:HA. The ommatidial disorganization and the associated neurodegeneration is further enhanced by spoonKG02745 homozygosity.

Similarly, expression of spoonUAS.Tag:HA and spoonKH.UAS.Tag:HA (but not spoonTudor.UAS.Tag:HA) ameliorates the age-progressive wing posture and climbing ability defects in flies expressing Hsap\ATXN8OSCTG9.Scer\UAS under the Scer\GAL4Mhc.F3-580 driver.

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 (3)
Reported As
Symbol Synonym
Hsap\ATXN8OSCTG112.Scer\UAS
Hsap\ATXN8OSCTG112.UAS
Hsap\SCA8CTG112.Scer\UAS
Name Synonyms
Secondary FlyBase IDs
    References (4)