Open Close
General Information
Symbol
Hsap\ATXN7102Q.T.UAS.Tag:NLS(SV40-largeT)
Species
H. sapiens
Name
FlyBase ID
FBal0290348
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 a truncated version (amino acids 1-232) of a Hsap\ATXN7 cDNA, which contains an expanded number of 102 glutamines in the glutamine repeat. The protein is tagged with a nuclear localization signal (Tag:NLS(SV40-largeT)).

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

The expression of Hsap\ATXN710Q.T.UAS.Tag:NLS(SV40-largeT) under the control of Scer\GAL4GMR.PU leads to a very mild toxicity in the eye, as judged by a very mild but progressive loss of eye pigmentation.

Flies expressing Hsap\ATXN7102Q.T.Scer\UAS.T:SV40\nls-largeT under the control of Scer\GAL4elav.Switch.PO only during the adult stage (RU486 used to control the stage of expression) are short lived compared to control flies. Climbing ability of flies 16 days after induction of expression is significantly reduced compared to controls. 18 day old flies expressing Hsap\ATXN7102Q.T.Scer\UAS.T:SV40\nls-largeT under the control of Scer\GAL4elav.Switch.PO in the presence of RU486 results in a small number of TUNEL-positive cells in the brain, most notably in the optic lobe (TUNEL-positive cells are not seen in the control flies). Mutant neurons contain neuronal intranuclear inclusions, which are fibrillar in structure. The nuclear membrane, mitochondria and chromatin appear normal. Flies expressing Hsap\ATXN7102Q.T.Scer\UAS.T:SV40\nls-largeT under the control of Scer\GAL4elav-C155 or Scer\GAL4how-24B are also short lived compared to control flies.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Suppressed by
Statement
Reference
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
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\ATXN7102Q.T.Scer\UAS.T:SV40\nls-largeT
Hsap\ATXN7102Q.T.Scer\UAS.T:SV40\nls2
Hsap\ATXN7102Q.T.UAS.Tag:NLS(SV40-largeT)
Name Synonyms
Secondary FlyBase IDs
    References (5)