Allele Hsap\TBP^80Q.Scer\UAS

General Information
Symbol	Hsap\TBP^80Q.Scer\UAS	Species	H. sapiens
Name		FlyBase ID	FBal0263673
Feature type	allele	Associated gene	Hsap\TBP

Allele class
Mutagen	in vitro construct - site directed mutagenesis
Recent Updates
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FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Nature of the Allele
Allele class
Mutagen	in vitro construct - site directed mutagenesis (Ren et al., 2011)
Mutations Mapped to the Genome

Type Location Additional Notes References
Associated Sequence Data
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name

UniProtKB/Swiss-Prot
UniProtKB/TrEMBL

Progenitor genotype	Hsap\TBP^Scer\UAS.cRa (Ren et al., 2011)
Nature of the lesion	Statement Reference Carries an expanded poly-Q tract in the second CAG repeat block with 80 glutamines. (Ren et al., 2011)
Carried in construct	P{UAS:hTBP.80Q} (Ren et al., 2011)
Cytology
Phenotypic Data
Phenotypic Class
	locomotor behavior defective, with Scer\GAL4^elav.PU (Ren et al., 2011) short lived, with Scer\GAL4^elav.PU (Ren et al., 2011) visible, with Scer\GAL4^GMR.PU (Ren et al., 2011)
Phenotype Manifest In
	eye, with Scer\GAL4^GMR.PU (Ren et al., 2011) ommatidium, with Scer\GAL4^GMR.PU (Ren et al., 2011) photoreceptor, with Scer\GAL4^GMR.PU (Ren et al., 2011)
Detailed Description
	Statement Reference Expression of Hsap\TBP[80Q.Scer\UAS] in the eye under the control of Scer\GAL4[GMR.PU] results in the collapse of the eye structure, a loss of pigmentation and severely disorganised photoreceptors. Ommatidial fusion is also observed. The eye defects worsen as flies age. While flies expressing Hsap\TBP[80Q.Scer\UAS] under the control of Scer\GAL4[elav.PU] at young ages perform similarly to aged-matched wild-type flies, they exhibit a late-onset locomotor impairment. Flies expressing Hsap\TBP[80Q.Scer\UAS] under the control of Scer\GAL4[elav.PU] exhibit shortened lifespan compared with wild-type controls. (Ren et al., 2011)
External Data
Linkouts
Interactions
	Show the genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement Reference Hsap\TBP^80Q.Scer\UAS, Scer\GAL4^GMR.PU has visible phenotype, enhanceable by Su(H)^VDRC.cUa, Scer\GAL4^GMR.PU (Ren et al., 2011)
Suppressed by
Statement Reference Hsap\TBP^80Q.Scer\UAS, Scer\GAL4^GMR.PU has visible phenotype, suppressible \| partially by Su(H)^{Scer\UAS.T:Hsap\MYC}, Scer\GAL4^GMR.PU (Ren et al., 2011)
Phenotype Manifest In
Enhanced by
Statement Reference Hsap\TBP^80Q.Scer\UAS, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Su(H)^VDRC.cUa, Scer\GAL4^GMR.PU (Ren et al., 2011) Hsap\TBP^80Q.Scer\UAS, Scer\GAL4^GMR.PU has ommatidium phenotype, enhanceable by Su(H)^VDRC.cUa, Scer\GAL4^GMR.PU (Ren et al., 2011)
Suppressed by
Statement Reference Hsap\TBP^80Q.Scer\UAS, Scer\GAL4^GMR.PU has eye phenotype, suppressible \| partially by Su(H)^{Scer\UAS.T:Hsap\MYC}, Scer\GAL4^GMR.PU (Ren et al., 2011) Hsap\TBP^80Q.Scer\UAS, Scer\GAL4^GMR.PU has ommatidium phenotype, suppressible \| partially by Su(H)^{Scer\UAS.T:Hsap\MYC}, Scer\GAL4^GMR.PU (Ren et al., 2011)
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference Expression of Su(H)[VDRC.cUa] under the control of Scer\GAL4[GMR.PU] enhances the eye abnormalities caused by the overexpression of Hsap\TBP[80Q.Scer\UAS]. Overexpression of Su(H)[Scer\UAS.T:Hsap\MYC] under the control of Scer\GAL4[GMR.PU] partially suppresses the eye abnormalities caused by the overexpression of Hsap\TBP[80Q.Scer\UAS] with an improvement in both the shape and organisation of ommatidia. Ommatidial fusion is no longer observed and pigment loss is less severe. (Ren et al., 2011)
Complementation & Rescue Data
Comments
Stocks ( 0 )

Notes on Origin
Discoverer

External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 1 )
Reported As
Symbol Synonym	Hsap\TBP^80Q.Scer\UAS
Name Synonym
Secondary FlyBase IDs

References ( 1 )
Research paper	Ren et al., 2011, Hum. Mol. Genet. 20(17): 3424--3436 A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome. [FBrf0214639]

Allele Hsap\TBP80Q.Scer\UAS

Allele Hsap\TBP^80Q.Scer\UAS