Allele Dmel\Aats-tyr^{E196K.Scer\UAS}

General Information
Symbol	Dmel\Aats-tyr^{E196K.Scer\UAS}	Species	D. melanogaster
Name		FlyBase ID	FBal0230483
Feature type	allele	Associated gene	Dmel\Aats-tyr

Allele class
Mutagen	in vitro construct - regulatory fusion, in vitro construct - amino acid replacement
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 - amino acid replacement (Storkebaum et al., 2009) in vitro construct - regulatory fusion (Storkebaum et al., 2009)
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 Scer\UAS regulatory sequences drive expression of a mutant form of Aats-tyr. (Storkebaum et al., 2009) Amino acid replacement: E196K. (Storkebaum et al., 2009)
Carried in construct	P{UAS-Aats-tyr.E196K} (Storkebaum et al., 2009, Leitao-Goncalves et al., 2012)
Cytology
Phenotypic Data
Phenotypic Class
	flightless, with Scer\GAL4^Act5C.PU (Storkebaum et al., 2009) jumping defective, with Scer\GAL4^Act5C.PU (Storkebaum et al., 2009) lethal, with Scer\GAL4^Act5C.PI (Leitao-Goncalves et al., 2012) locomotor behavior defective, with Scer\GAL4^Act5C.PU (Storkebaum et al., 2009) locomotor behavior defective, with Scer\GAL4^n-syb.PS (Storkebaum et al., 2009, Leitao-Goncalves et al., 2012) neurophysiology defective \| adult stage, with Scer\GAL4^A307 (Storkebaum et al., 2009)
Phenotype Manifest In
	giant fiber neuron, with Scer\GAL4^A307 (Storkebaum et al., 2009)
Detailed Description
	Statement Reference Neuronal expression of Aats-tyr[E196K.Scer\UAS] usint Scer\GAL4[n-syb.PS] induces a significant climbing deficit compared with controls. Ubiquitous expression of Aats-tyr[E196K.Scer\UAS] under the control of Scer\GAL4[Act5C.PI] induces significant lethality. (Leitao-Goncalves et al., 2012) Flies expressing one copy of Aats-tyr[E196K.Scer\UAS] under the control of Scer\GAL4[Act5C] show a severely impaired performance in a negative geotaxis climbing assay compared to controls. Aged flies expressing Aats-tyr[E196K.Scer\UAS] under the control of Scer\GAL4[Act5C] show impairment in both jump and flight ability (92% of aged flies fail to fly and 30% fail to jump). This impairment is progressive, becoming more severe as the flies age. Flies expressing Aats-tyr[E196K.Scer\UAS] under the control of Scer\GAL4[n-syb.PS] show an impaired performance in a negative geotaxis climbing assay compared to controls. Flies expressing two copies of Aats-tyr[E196K.Scer\UAS] under the control of Scer\GAL4[A307] show electrophysiological defects in the giant fiber system. Some flies have normal response latencies but defects in following high frequency stimulation, whereas some flies are more severely affected and have an increased response latency. The severity and frequency of the mutant phenotype increases with age. (Storkebaum et al., 2009)
External Data
Linkouts
Interactions
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference
Complementation & Rescue Data
Rescues	Scer\GAL4^sca.PU/Aats-tyr^{E196K.Scer\UAS} rescues Aats-tyr^NIG.4561R (Storkebaum et al., 2009)
Comments	The bristle defects caused by expression of Aats-tyr[NIG.4561R] under the control of Scer\GAL4[sca.PU] are completely rescued by co-expression of Aats-tyr[E196K.Scer\UAS]. (Storkebaum et al., 2009)
Stocks ( 0 )

Notes on Origin
Discoverer

External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 1 )
Reported As
Symbol Synonym	Aats-tyr^{E196K.Scer\UAS}
Name Synonym
Secondary FlyBase IDs

References ( 2 )
Research paper	Leitao-Goncalves et al., 2012, Amino Acids 42(5): 1661--1668 Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. [FBrf0218080] Storkebaum et al., 2009, Proc. Natl. Acad. Sci. U.S.A. 106(28): 11782--11787 Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy. [FBrf0208295]

Allele Dmel\Aats-tyrE196K.Scer\UAS

Allele Dmel\Aats-tyr^{E196K.Scer\UAS}