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General Information
Symbol
Hsap\TARDBPA315T.UAS.cVa
Species
H. sapiens
Name
UAS A315T construct a of Verstreken
FlyBase ID
FBal0298364
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
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 mutated Hsap\TARDBP sequences that carry a A315T amino acid substitution.

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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\TARDBPA315T.cMa.Scer\UAS under the control of Scer\GAL4D42 results in an increase in the top size of synaptic T-bars and an increase in the number of tethered vesicles. The EJC amplitude and quantal content is increased in animals expressing Hsap\TARDBPA315T.cMa.Scer\UAS.

Aged flies expressing Hsap\TARDBPA315T.cMa.Scer\UAS under the control of Scer\GAL4elav.PU show reduced motor activity in an automated 24hr monitoring system as well as reduced negative geotaxis.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

Expression of Hsap\ELP3Scer\UAS.cMa suppresses the larger synaptic T-bar size found upon expression of Hsap\TARDBPA315T.cMa.Scer\UAS under the control of Scer\GAL4elav.PU.

A HDAC6KO heterozygous background suppresses the larger synaptic T-bar size found upon expression of Hsap\TARDBPA315T.cMa.Scer\UAS under the control of Scer\GAL4elav.PU.

While overexpression of Hsap\ELP3Scer\UAS.cMa or heterozygosity for HDAC6KO alone has no effect on activity or negative geotaxis, these conditions both significant suppress the activity and geotaxis defects in flies expressing Hsap\TARDBPA315T.cMa.Scer\UAS under the control of Scer\GAL4elav.PU.

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 (4)
Reported As
Symbol Synonym
Hsap\TARDBPA315T.UAS.cVa
Hsap\TARDBPA315T.cMa.Scer\UAS
Hsap\TARDBPA315T.cMa.UAS
Name Synonyms
UAS A315T construct a of Verstreken
Secondary FlyBase IDs
    References (3)