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General Information
Symbol
Hsap\FUSP525L.UAS.RFP(Unk),Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0285344
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-P525L-FUS-RFP
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 mutated Hsap\FUS coding sequences (carries the amino acid replacement P525L) fused at the C-terminal with an unspecified red fluorescent protein and a Tag:HA epitope.

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.Pro525Leu
Variants Synonym(s)
FUS:p.Pro521Leu
FUS:p.Pro524Leu
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Expression of Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 under the control of Scer\GAL4Toll-6-D42 results in decreased size of axonal mitochondria in motor neurons in the A3 abdominal segment of third instar larvae. Expression under the Scer\GAL4GMR.PU driver leads to rough eye phenotype due to ommatidial fusion and interommatidial bristles disorganization as well as loss of pigmentation in adult flies.

Flies expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 in the developing eye, under the control of Scer\GAL4GMR.PF, exhibit severe eye abnormalities. They show a reduction in red eye pigment as compared to controls, beginning at eclosion. No necrosis-like darkened area are observed, although rough eye surfaces with disrupted ommatidia and bristle organisation are seen. SEM at higher magnification reveals ommatidial loss, ommatidial fusion, bristle loss or ectopic bristles and aberrant bristle budding in the inter-ommatidial spaces.

The surface of the eye appears relatively normal in 5-day-old flies expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 under the control of Scer\GAL4GMR.PF. However, by day 15 this surface has rapidly deteriorated.

1-day-old flies expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 under the control of Scer\GAL4ey-OK107 exhibit a decrease in the size of the mushroom bodies and thinner lobes as compared to control flies. Axonal loss and lobe involvement is not symmetric, but often in the a 'group' fashion. Once a particular lobe is affected, it progressively degenerates. In many cases, one of the mushroom bodies may exhibit more degeneration than the mushroom body on the other side.

Expression of Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 in the glutamatergic neurons of the ventral nerve cord, under the control of Scer\GAL4ey-OK107 leads to disruption in motor neuron clusters, with cell body swelling in a fraction of motor neurons, especially in the posterior segment.

A significant decrease in neuromuscular junction bouton number is observed in flies expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 in glutamatergic neurons of the ventral nerve cord, under the control of Scer\GAL4VGlut-OK371, as compared to controls. Bouton size in these flies is significantly reduced as compared to controls.

Larval locomotion is significantly reduced in flies expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 under the control of Scer\GAL4VGlut-OK371. These larvae move more slowly with their tails lifted rather than anchored on the supporting surface, possibly as a result of paralysis of the posterior segments. These locomotion defects can be so severe that the flies cannot climb up the wall and/or hardly move. Most Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1-expressing pupae fail to hatch.

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

The adult eye phenotype (rough surface due to ommatidial fusion and disorganization of interommatidial bristle pattern, pigmentation loss) characteristic for flies expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 under the control of Scer\GAL4GMR.PU is partially rescued by co-expression of Hsp60BVDRC.cUa and to a lesser extent also by Hsp60AVDRC.cUa or Hsp60CVDRC.cUa but neither the rough eye phenotype nor the pigmentation loss is significantly affected by co-expression of any of the following: Hsp60DGD8786, Drp1Scer\UAS.cUa, Drp1dsRNA.Scer\UAS.cUa or Drp1K38A.Scer\UAS.T:Ivir\HA1. The decreased size of axonal mitochondria in motor neurons as well as the locomotor defects (tail paralysis) observed in third instar larvae expressing Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 under the control of Scer\GAL4Toll-6-D42 or Scer\GAL4VGlut-OK371, respectively, is also significantly improved by co-expression of Hsp60BVDRC.cUa.

Complementation and Rescue Data
Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
Comments
Comments

In respect to eye and motor neuron degeneration, the following transgenes form an allelic series when expressed by Scer\GAL4GMR.PF or Scer\GAL4ey-OK107, from mildest to most severe: Hsap\FUSWT.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 < Hsap\FUSR524S.Scer\UAS.T:Disc\RFP,T:Ivir\HA1 < Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (2)
Reported As
Symbol Synonym
Hsap\FUSP525L.Scer\UAS.T:Disc\RFP,T:Ivir\HA1
Hsap\FUSP525L.UAS.RFP(Unk),Tag:HA
Name Synonyms
Secondary FlyBase IDs
    References (8)