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General Information
Symbol
Hsap\TARDBPQ331K.UAS.cSa
Species
H. sapiens
Name
Saccharomyces cerevisiae UAS construct a of Sreedharan
FlyBase ID
FBal0316422
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
Cytology
Nature of the lesion
Statement
Reference

UAS regulatory sequences drive expression of full length Hsap\TARDBP in which the glutamine at residue 331 has been replaced by lysine.

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 ( 1 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
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.Gln331Lys
Variants Synonym(s)
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Leg motor neuron clones that express TBPHScer\UAS.cDa under the control of Scer\GAL4VGlut-OK371 exhibit severe motor axon and NMJ degeneration. By 7 days post-eclosion degeneration is seen in over 50% of motor neurons. Axons develop transverse striations and progressively lose structural integrity, and NMJs exhibit reduced active zone density. No apoptosis is seen in the motor neuron cell bodies. Sensory neurons are less severely affected.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
NOT suppressed by
NOT Suppressor of
Phenotype Manifest In
Suppressed by
Statement
Reference
NOT suppressed by
Statement
Reference
NOT Suppressor of
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

sggJ11 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed upon expression of sggScer\UAS.cBa or in the presence of Dp(1;3)DC048.

Expression of Mmus\wldS.Scer\UAS.cNa does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

Ect4896 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

sggJ11 partially suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed upon expression of sggScer\UAS.cBa or in the presence of Dp(1;3)DC048.

htk71 partially suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed in the presence of Dp(1;3)DC353.

htk39 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

htk47 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

Rbf14 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

RbfCAS-21 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

xmas-245 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371. This suppression is reversed in the presence of Dp(1;3)DC325.

xmas-2f04114 suppresses the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

sbr12 does not suppress the degeneration seen in leg motor neuron clones expressing Hsap\TARDBPQ331K.Scer\UAS.cSa under the control of Scer\GAL4VGlut-OK371.

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 (3)
Reported As
Symbol Synonym
Hsap\TARDBPQ331K.Scer\UAS.cSa
Hsap\TARDBPQ331K.UAS.cSa
Name Synonyms
Saccharomyces cerevisiae UAS construct a of Sreedharan
Secondary FlyBase IDs
    References (2)