FlyBase Allele Report: Hsap\FUS[P525L.UAS.cJa.Tag:HA]

General Information

Symbol

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0324819

Feature type

allele

Associated gene

Hsap\FUS

Associated Insertion(s)

Carried in Construct

P{UAS-HA-hFUS.P525L}

Key Links

Transgenic product class

missense_variant

(Jäckel et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Jäckel et al., 2015)

Mutagen

in vitro construct

(Jäckel et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-HA-hFUS.P525L}

Cytology

Description

UASt regulatory sequences drive expression of a disease-related variant of Hsap\FUS (carries the P525L mutation). The protein is tagged at the N-terminal end with Tag:HA.

(Jäckel et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\FUS

Tagged with

Tag:HA

epitope tag

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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

model of amyotrophic lateral sclerosis type 6

CEA

(Jäckel et al., 2015)

model of frontotemporal dementia

CEA

(Jäckel et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 6

is exacerbated by Tnpo^GD33

(Jäckel et al., 2015)

is exacerbated by Tnpo^GD14426

(Jäckel et al., 2015)

is exacerbated by Art1^GD11959

(Jäckel et al., 2015)

is exacerbated by Art1^KK101196

(Jäckel et al., 2015)

is exacerbated by Art1^JF01306

(Jäckel et al., 2015)

model of frontotemporal dementia

is exacerbated by Tnpo^GD33

(Jäckel et al., 2015)

is exacerbated by Tnpo^GD14426

(Jäckel et al., 2015)

is exacerbated by Art1^GD11959

(Jäckel et al., 2015)

is exacerbated by Art1^KK101196

(Jäckel et al., 2015)

is exacerbated by Art1^JF01306

(Jäckel et al., 2015)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Jäckel et al., 2015)

FUS:p.Pro525Leu

(FlyBase curators, 2019-)

Variants Synonym(s)

FUS:p.Pro521Leu

FUS:p.Pro524Leu

Associated human disease model(s)

amyotrophic lateral sclerosis 6 with or without frontotemporal dementia

External database links

ClinVar: FUS_280110

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Detailed Description

Statement

Reference

Expression of Hsap\FUS^{P525L.Scer\UAS.cJa.T:Ivir\HA1} driven by Scer\GAL4^GMR.PF results in a severe rough eye phenotype, with significant loss of pigmentation, as compared to controls.

Expression of Hsap\FUS^{P525L.Scer\UAS.cJa.T:Ivir\HA1} driven by Scer\GAL4^VGlut-OK371 leads to partial lethality before eclosion, with the few adults surviving up to 5 days; the surviving adults present severe and progressive mobility defects in negative geotaxis assays, as compared to controls, reaching complete immobility at day 3 post eclosion.

Expression of Hsap\FUS^{Scer\UAS.cJa.T:Ivir\HA1} driven by Scer\GAL4^VGlut-OK371 also leads to locomotive defects in third instar larval righting assays, as compared to controls.

(Jäckel et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Tnpo^GD33, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Tnpo^GD14426, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Art1^GD11959, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Art1^KK101196, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has visible phenotype, enhanceable by Art1^JF01306, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Tnpo^GD33, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Tnpo^GD14426, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Art1^GD11959, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Art1^KK101196, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Art1^JF01306, Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of either Trn^GD33 or Trn^GD14426 enhances the severe eye defects resulting from the expression of Hsap\FUS^{P525L.Scer\UAS.cJa.T:Ivir\HA1} driven by Scer\GAL4^GMR.PF, as evident from the appearance of some black lesions.

Co-expression of either Art1^GD11959, Art1^KK101196 or Art1^JF01306 enhances the severe eye defects resulting from the expression of Hsap\FUS^{P525L.Scer\UAS.cJa.T:Ivir\HA1} driven by Scer\GAL4^GMR.PF, as compared to controls.

(Jäckel et al., 2015)

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\FUS^{P525L.Scer\UAS.cJa.T:Ivir\HA1}

Hsap\FUS^{P525L.UAS.cJa.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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