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General Information
Symbol
Hsap\ATXN182.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0104777
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-SCA1-82
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 mutant form of Hsap\ATXN1 which has an expanded repeat length encoding 82 glutamine residues.

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 )
Disease
Evidence
References
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

Expression of Hsap\ATX182.Scer\UAS, under the control of Scer\GAL4GMR.PF, results in a severely deformed eye phenotype. The ridge along the dorsal-ventral axis of the eye consistently displays the most severe defects; the eye surface is prominently glazed; there is a loss of bristles and pigmentation; ommatidia are disordered; photoreceptors suffer degeneration. Coexpression of Hsap\ATX182.Scer\UAS and Hsap\ATX10Q.Scer\UAS.T:Zzzz\FLAG, under the control of Scer\GAL4GMR.PF, causes a more severe eye phenotype, in which eye structure is collapsed and photoreceptors are severely degenerated.

Flies expressing Hsap\ATX182.Scer\UAS under the control of Scer\GAL4GMR.PF show severe disruption of the retinal structure.

Expression of Hsap\ATX182.Scer\UAS under the control of Scer\GAL4GMR.PF results in a retinal degeneration phenotype.

Expression of Hsap\ATX182.Scer\UAS under the control of Scer\GAL4Cha.7.4 results in a brain degeneration phenotype, approximately 50% of cholinergic neurons of the lamina degenerate after 30 days.

When Hsap\ATX182.Scer\UAS is driven by Scer\GAL4hs.PB (without heat shock) expression is seen in the salivary gland. This expression is detrimental to salivary gland development. Late third instar larvae display cellular deformations, including a significant reduction in cell volume and a notable disarray in tissue organisation. When Hsap\ATX182.Scer\UAS is driven by Scer\GAL4GMR.PF a rough eye phenotype is seen.

Expression of Hsap\ATX182.Scer\UAS under the control of Scer\GAL4GMR.PF results in a slightly rough and depigmented eye.

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

Expression of two copies of the Hsap\BoatScer\UAS.T:Zzzz\FLAG transgene, under the control of Scer\GAL4GMR.PF, suppresses the Scer\GAL4GMR.PF>Hsap\ATX182.Scer\UAS-induced eye phenotype. These flies show a restoration of bristle formation, pigmentation, and overall eye structure. However, there is also a gain-of-function phenotype, with rescued eyes showing thicker and longer bristles.

The retinal disruption seen in flies expressing Hsap\ATX182.Scer\UAS under the control of Scer\GAL4GMR.PF is suppressed by co-expression of Hsap\MJDfl.Q27.Scer\UAS.T:Hsap\MYC.

The rough eye phenotype seen Hsap\ATX182.Scer\UAS, Scer\GAL4GMR.PF animals is enhanced by SmrBG01648, resulting in a glazed eye surface, severely disorganised ommatidia, and most prominently loss of bristles. The rough eye phenotype seen Hsap\ATX182.Scer\UAS, Scer\GAL4GMR.PF animals is suppressed by Dp(1;Y)BSC5 or DnaJ-1Scer\UAS.cKa.

Co-expression of CG7231EP2510 or Atx2EP3145 enhances the eye phenotype caused by expression of Hsap\ATX182.Scer\UAS under the control of Scer\GAL4GMR.PF; loss of eye pigmentation is enhanced and necrotic black spots are induced.

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\ATX182.Scer\UAS
Hsap\ATXN182.Scer\UAS
Hsap\ATXN182.UAS
Name Synonyms
Secondary FlyBase IDs
    References (7)