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General Information
Symbol
Hsap\FUSR521H.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0261076
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
FUS R521H
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

Amino acid replacement: R521H.

UAS regulatory sequences drive expression of mutated Hsap\FUS coding sequences.

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 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expressing Hsap\FUSR521H.UAS.Tag:HA under the control of Scer\GAL4GMR.PU causes a severe rough eye phenotype with patchy red pigmentation.

Expression of Scer\GAL4VGlut-OK371>Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 results in an approximately three-fold increase in the number of inter-bouton regions at third instar larval neuromuscular junctions compared with wild-type.

Scer\GAL4VGlut-OK371>Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1-expressing animals display a reduction in the number of presynaptic active zones compared with wild-type.

Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF causes severe eye degeneration, as compared to controls.

Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in the developing eye under the control of Scer\GAL4GMR.PF results in a severe neurodegeneration in the eye, characterised by disorganised ommatidia and loss of mechanosensory bristles.

Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in the nervous system under the control of Scer\GAL4Appl.G1a causes pupal lethality.

Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in the motor neurons under the control of Scer\GAL4VGlut-OK371 causes pupal lethality.

Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in motor neurons under the control of Scer\GAL4VGlut-OK371 causes a larval-crawling defect. These mutants display normal numbers of synaptic boutons.

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 Art1KK101196 enhances the eye degeneration phenotype seen in flies expressing Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF.

Co-expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 and Hsap\TARDBPScer\UAS.cRa in the developing eye under the control of Scer\GAL4GMR.PF leads to severe eye degeneration.

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\FUSR521H.Scer\UAS.T:Ivir\HA1
Hsap\FUSR521H.UAS.Tag:HA
Name Synonyms
Secondary FlyBase IDs
    References (5)