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General Information
Symbol
Hsap\FUSR521G.UAS.Tag:MYC
Species
H. sapiens
Name
FlyBase ID
FBal0278299
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UASt regulatory sequences drive expression of a mutant form of Hsap\FUS in which the arginine at amino acid 521 has been replaced by glycine. The construct is tagged with Tag:MYC.

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 ( 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.
FUS:p.Arg521Gly
Variants Synonym(s)
FUS:p.Arg517Gly
FUS:p.Arg520Gly
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Bx-MS1096 disrupts wing growth.

Ubiquitous expression of Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Act5C.PU results in lethality at both 25[o]C and 19[o]C.

Expression of Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC in neurons under the control of either Scer\GAL4elav.PU or Scer\GAL4D42 significantly reduces adult viability to at 25[o]C (to ~70% and 40% respectively). Flies are fully viable at 19[o]C with both drivers.

Expression of Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4GMR.PF results in dose-dependent eye degeneration in four day old flies, resulting in complete loss of ommatidial organisation in flies expressing two copies of Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC. The phenotype becomes progressively more severe with age.

The locomotor activity of male third instar larvae expressing Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4VGlut-OK371 is markedly impaired.

The locomotor activity of two day old adult flies expressing Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4VGlut-OK371 is severely impaired. A similar effect is seen in 10 day old flies.

Third instar larvae expressing Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4VGlut-OK371 show a substantial reduction in the area and the number of both large and small boutons in the neuromuscular junctions from ventral longitudinal muscles 6 and 7 of segment A2. The motor neurons in A1-A5 of the larval ventral nerve cord appear disorganised.

The nuclei of motor neurons expressing Hsap\FUSR521G.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4VGlut-OK371 have an abnormal structure. Reduced nuclear staining is seen, reminiscent of apoptotic bodies. Nuclear staining appear normal in adjacent non-motor neurons.

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
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\FUSR521G.Scer\UAS.T:Hsap\MYC
Hsap\FUSR521G.UAS.Tag:MYC
Name Synonyms
Secondary FlyBase IDs
    References (3)