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General Information
Symbol
Hsap\FUSR518K.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0261074
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
FUS R518K
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

Amino acid replacement: R518K.

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 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
FUS:p.Arg518Lys
Variants Synonym(s)
FUS:p.Arg514Lys
FUS:p.Arg517Lys
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expressing Hsap\FUSR518K.UAS.Tag:HA under the control of Scer\GAL4GMR.PF results in progressive eye degeneration: rough eye with loss of pigmentation; retinal degradation, length reduction, and separation from the lamina at the basal membrane. There is a decrease in adult climbing activity.

Expressing Hsap\FUSR518K.UAS.Tag:HA under the control of Scer\GAL4Toll-6-D42 leads to more satellite boutons (but no change in the number of mature boutons or boutons size) in the larval neuromuscular junction.

The expression of Hsap\FUSR518K.UAS.Tag:HA under the control of Scer\GAL4GMR.PF leads to a rough eye phenotype, with depigmentation.

Adults expressing Hsap\FUSR518K.UAS.Tag:HA under the control of Scer\GAL4Toll-6-D42 show a significant and progressive decrease in locomotor ability (i.e. speed), as compared to controls.

Expressing Hsap\FUSR518K.UAS.Tag:HA under the control of Scer\GAL4GMR.PU causes a severe rough eye phenotype with patchy red pigmentation.

Motor neuron expression of Hsap\FUSR518K.Scer\UAS.T:Ivir\HA1 using Scer\GAL4VGlut-OK371 leads to larval paralysis and pupal lethality.

Expression of Hsap\FUSR518K.Scer\UAS.T:Ivir\HA1 in motor neurons under the control of Scer\GAL4VGlut-OK371 causes smaller brain size in third instar larvae.

Expression of Hsap\FUSR518K.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, correlated with vacuolar neurodegeneration with severe disruption of the retinal organization and thinning of the retina.

Expression of Hsap\FUSR518K.Scer\UAS.T:Ivir\HA1 in the nervous system under the control of Scer\GAL4Appl.G1a causes pupal lethality.

Expression of Hsap\FUSR518K.Scer\UAS.T:Ivir\HA1 in motor neurons under the control of Scer\GAL4VGlut-OK371 causes a larval-crawling defect.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
NOT Enhanced by
Suppressed by
NOT suppressed by
Suppressor of
NOT Suppressor of
Phenotype Manifest In
Enhanced by
NOT Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
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\FUSR518K.Scer\UAS.T:Ivir\HA1
Hsap\FUSR518K.UAS.Tag:HA
Name Synonyms
Secondary FlyBase IDs
    References (9)