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General Information
Symbol
Hsap\TARDBPM337V.UAS.cLa
Species
H. sapiens
Name
FlyBase ID
FBal0314154
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
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

UASt regulatory sequences drive expression of Hsap\TARDBP containing the amino acid replacement M337V (this mutation is associated with the disease amyotrophic lateral sclerosis).

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 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
TARDBP:p.Met337Val
Variants Synonym(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4elav.PU results in embryonic lethality at 25[o]C, but these flies are viable at 18[o]C and exhibit abnormal climbing ability, as compared to controls.

Expression of Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4GMR.PU does not lead to any obvious eye phenotype.

Expression of Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4vg.PU results in a subset of flies possessing supernumerary scutellar bristles.

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

Co-expression of dcoScer\UAS.cUa does not lead to any obvious eye phenotype in flies expressing Hsap\TARDBPM337V.Scer\UAS.cLa under the control of Scer\GAL4GMR.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 (2)
Reported As
Symbol Synonym
Hsap\TARDBPM337V.Scer\UAS.cLa
Hsap\TARDBPM337V.UAS.cLa
Name Synonyms
Secondary FlyBase IDs
    References (5)