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General Information
Symbol
Hsap\ATXN130Q.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0119475
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

A Hsap\ATXN1 cDNA containing 30 CAG repeats is driven by UASt sequences.

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

Larval ddaE neurons expressing Hsap\ATXN130Q.UAS under the control of Scer\GAL4221 do not show significant changes in growing microtubules within dendrites, as compared to neurons in controls.

Larvae expressing Hsap\ATXN130Q.Scer\UAS in class IV da neurons under the control of Scer\GAL4ppk.PG do not exhibit any detectable dendritic abnormalities.

Flies expressing Hsap\ATXN130Q.Scer\UAS under the control of Scer\GAL4GMR.PF at 25[o]C show mild ommatidial disorganisation and interommatidial bristle loss.

Flies expressing high levels of Hsap\ATX130Q.Scer\UAS under the control of Scer\GAL4GMR.PF have a moderate external eye phenotype, with mild ommatidial disorganisation. These flies show a reduction in retinal depth.

Expression of Hsap\ATX130Q.Scer\UAS when driven by Scer\GAL4GMR.PF leads to degeneration of the retina. An increase in the temperature at which the flies are raised, or a doubling of the does, leads to a strengthening of the eye phenotype. Expression driven by Scer\GAL4VNC.ap leads to very mild neuronal loss.

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\RBM17Scer\UAS.cLa has little effect on the mild eye phenotype seen in flies expressing Hsap\ATXN130Q.Scer\UAS under the control of Scer\GAL4GMR.PF at 25[o]C.

Expression of Spf45Scer\UAS.cLa has little effect on the mild eye phenotype seen in flies expressing Hsap\ATXN130Q.Scer\UAS under the control of Scer\GAL4GMR.PF at 25[o]C.

Co-expression of Hsap\STUB1Scer\UAS.cAa suppresses the eye phenotype caused by expression of Hsap\ATX130Q.Scer\UAS under the control of Scer\GAL4GMR.PF.

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 (3)
Reported As
Symbol Synonym
Hsap\ATX130Q.Scer\UAS
Hsap\ATXN130Q.Scer\UAS
Hsap\ATXN130Q.UAS
Name Synonyms
Secondary FlyBase IDs
    References (9)