A Database of Drosophila Genes & Genomes

FB2013_03, released May 7th, 2013
 

Allele Hsap\ATXN8OSCTG112.Scer\UAS

General Information
SymbolHsap\ATXN8OSCTG112.Scer\UASSpeciesH. sapiens
NameFlyBase IDFBal0156378
Feature typealleleAssociated geneHsap\ATXN8OS
Allele class
Mutagenin vitro construct - regulatory fusion
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Description
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FB2013_03
FB2013_02
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Allele class
Mutagen
Mutations Mapped to the Genome
Type
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Associated Sequence Data
DDBJ /
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DNA sequence
Protein sequence
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Nature of the lesion
Statement
Reference
Construct: Scer\UAS regulatory sequences drive expression of exons D, C3, C2 and A of a Hsap\SCA8 cDNA. This construct contains a pathogenic, expanded configuration of CTG repeats which has the configuration CTA3CTG5CCG3CTG112.
Carried in construct
Cytology
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eye photoreceptor cell & neuron, with Scer\GAL4GMR.PF
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Statement
Reference
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.
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Reported As
Symbol Synonym
Hsap\ATXN8OSCTG112.Scer\UAS
 
Hsap\SCA8CTG112.Scer\UAS
 
Name Synonym
Secondary FlyBase IDs
hide References ( 1 )
Research paper
Mutsuddi et al., 2004, Curr. Biol. 14(4): 302--308
The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. [FBrf0174476]