Allele Hsap\TTR^A.Scer\UAS

General Information
Symbol	Hsap\TTR^A.Scer\UAS	Species	H. sapiens
Name		FlyBase ID	FBal0249061
Feature type	allele	Associated gene	Hsap\TTR

Allele class
Mutagen	in vitro construct - regulatory fusion, 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 - regulatory fusion (Pokrzywa et al., 2007) in vitro construct - site directed mutagenesis (Pokrzywa et al., 2007)
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
Nature of the lesion	Statement Reference Amino acid replacement: V14N. (Pokrzywa et al., 2007) Amino acid replacement: V16E. (Pokrzywa et al., 2007) Scer\UAS regulatory sequences drive expression of mutated Hsap\TTR cDNA sequences (including the native 20 amino acid long signal peptide). (Pokrzywa et al., 2007)
Carried in construct	P{UAS-TTR-A} (Pokrzywa et al., 2007)
Cytology
Phenotypic Data
Phenotypic Class
	locomotor behavior defective, with Scer\GAL4^GMR.PF (Pokrzywa et al., 2007) short lived, with Scer\GAL4^GMR.PF (Pokrzywa et al., 2007)
Phenotype Manifest In
	wing, with Scer\GAL4^GMR.PF (Pokrzywa et al., 2007)
Detailed Description
	Statement Reference Flies expressing Hsap\TTR[A.Scer\UAS] under the control of Scer\GAL4[GMR.PF] exhibit Triton X-100 soluble Hsap\TTR protein 1 day post-eclosion. However, 30 days post-eclosion, no Triton X-100 soluble Hsap\TTR protein is left, with all the protein forming insoluble aggregates. This aggregated Hsap\TTR remains after shutdown of the transgene expression, suggesting its resistance to proteolytic processes. Increased overexpression of Hsap\TTR[A.Scer\UAS] under the control of two copies of Scer\GAL4[GMR.PF] results in wing defects. The wing angle changes and results in a dragged posture, seen as early as 2-3 days post-eclosion. Mutant female flies are affected 2-3 times more often than males of the same genotype. With four days of eclosion 43% of females develop dragged wings and nearly 90% of them by 6 days. Penetrance varies between 40 and 90% at room temperature. Those mutant flies with the most severe wing phenotypes developed other sensorimotor changes such as climbing problems. Mutant flies fail to show any climbing after a few hours and fail to regain the ability. These flies also show significant loss of flight performance. This flies exhibited a negative righting reflex, as the flies jump before the flight but land on their backs and have difficulties resuming an upright position. Life span is shortened for flies expressing Hsap\TTR[A.Scer\UAS] under the control of two copies of Scer\GAL4[GMR.PF]. Hsap\TTR[A.Scer\UAS] flies have a median survival of 14 days in females and 20 days in males (compared to 34 and 32 days respectively in controls). (Pokrzywa et al., 2007)
External Data
Linkouts
Interactions
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference
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\TTR^A.Scer\UAS
Name Synonym
Secondary FlyBase IDs

References ( 2 )
Research paper	Pokrzywa et al., 2010, PLoS ONE 5(12): e14343 Uptake of Aggregating Transthyretin by Fat Body in a Drosophila Model for TTR-Associated Amyloidosis. [FBrf0212549] Pokrzywa et al., 2007, Europ. J. Neurosci. 26(4): 913--924 Misfolded transthyretin causes behavioral changes in a Drosophila model for transthyretin-associated amyloidosis. [FBrf0201585]

Allele Hsap\TTRA.Scer\UAS

Allele Hsap\TTR^A.Scer\UAS