FlyBase Allele Report: Hsap\TARDBP[NLSmut.UAS.Tag:MYC]

General Information

Symbol

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}

Species

H. sapiens

Name

FlyBase ID

FBal0261047

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTDP-43.mutNLS.Myc}

Key Links

Transgenic product class

protein_altering_variant

(Ritson et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

protein_altering_variant

(Ritson et al., 2010)

Mutagen

in vitro construct

(Ritson et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-hTDP-43.mutNLS.Myc}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\TARDBP coding sequences where the nuclear localization signal (NLS) is mutated. The protein is tagged with Tag:MYC.

(Ritson et al., 2010)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\TARDBP

Tagged with

Tag:MYC

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 neurodegenerative disease

CEA

(Crippa et al., 2016, Ritson et al., 2010)

model of amyotrophic lateral sclerosis type 10

CEA

(He et al., 2014)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates neurodegenerative disease

modeled by TER94^R152H.UAS.R

(Ritson et al., 2010)

modeled by Zzzz\CGG^90.UAS.EGFP

(He et al., 2014)

model of neurodegenerative disease

is ameliorated by Hsp67Bc^UAS.Tag:V5

(Crippa et al., 2016)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

Eye degeneration used to model disease.

(Ritson et al., 2010)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal eye color | adult stage, with Scer\GAL4^GMR.PF

(Crippa et al., 2016)

abnormal neuroanatomy | adult stage, with Scer\GAL4^GMR.PF

(Crippa et al., 2016)

increased cell death, with Scer\GAL4^GMR.PF

(Ritson et al., 2010)

visible | adult stage, with Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Crippa et al., 2016, Ritson et al., 2010)

ommatidium, with Scer\GAL4^GMR.PF

(Ritson et al., 2010)

ommatidium | adult stage, with Scer\GAL4^GMR.PF

(Crippa et al., 2016)

retina | adult stage, with Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Detailed Description

Statement

Reference

Expression of Hsap\TARDBP^{NLSmut.Scer\UAS} under the control of Scer\GAL4^GMR.PF leads to rough eye phenotype, depigmentation, retinal degeneration and partial loss of ommatidia.

(Crippa et al., 2016)

Expression of Hsap\TARDBP^{mutNLS.Scer\UAS} in the developing eye under the control of Scer\GAL4^GMR.PF results in a strong degenerative phenotype.

(Ritson et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by Hsp67Bc^GD11244, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has abnormal neuroanatomy | adult stage phenotype, enhanceable by Hsp67Bc^GD11244, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by Hsp67Bc^KK103547, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has abnormal neuroanatomy | adult stage phenotype, enhanceable by Hsp67Bc^KK103547, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Suppressed by

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has visible | adult stage phenotype, suppressible | partially by Hsp67Bc^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has abnormal eye color | adult stage phenotype, suppressible | partially by Hsp67Bc^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by Hsp67Bc^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has visible | adult stage phenotype, non-suppressible by CG14207^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has abnormal eye color | adult stage phenotype, non-suppressible by CG14207^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Other

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Hsp67Bc^GD11244, Scer\GAL4^GMR.PF has abnormal eye color | adult stage phenotype

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Hsp67Bc^KK103547, Scer\GAL4^GMR.PF has abnormal eye color | adult stage phenotype

(Crippa et al., 2016)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Hsp67Bc^GD11244, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has ommatidium | adult stage phenotype, enhanceable by Hsp67Bc^GD11244, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has retina | adult stage phenotype, enhanceable by Hsp67Bc^GD11244, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Hsp67Bc^KK103547, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has ommatidium | adult stage phenotype, enhanceable by Hsp67Bc^KK103547, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has retina | adult stage phenotype, enhanceable by Hsp67Bc^KK103547, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Suppressed by

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has eye phenotype, suppressible | partially by Hsp67Bc^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has ommatidium | adult stage phenotype, suppressible | partially by Hsp67Bc^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has retina | adult stage phenotype, suppressible | partially by Hsp67Bc^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}, Scer\GAL4^GMR.PF has eye phenotype, non-suppressible by CG14207^UAS.Tag:V5, Scer\GAL4^GMR.PF

(Crippa et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The eye degeneration phenotype (rough eye, depigmentation, partial loss of ommatidia) characteristic for flies expressing Hsap\TARDBP^{NLSmut.Scer\UAS} under the control of Scer\GAL4^GMR.PF is partially rescued by co-expression of Hsp67Bc^{Scer\UAS.T:SV5\V5}, while co-expression of either Hsp67Bc^GD11244 or Hsp67Bc^KK103547 exacerbates the eye degeneration phenotype - with darkening of the whole eyes or appearance of dark patches and severe retinal degeneration. Co-expression of CG14207^{Scer\UAS.T:SV5\V5} fails to improve either the rough eye phenotype or the depigmentation of the Hsap\TARDBP^{NLSmut.Scer\UAS}-expressing flies.

(Crippa et al., 2016)

Co-expression of TER94^Scer\UAS.cRa with Hsap\TARDBP^{mutNLS.Scer\UAS} in the developing eye, under the control of Scer\GAL4^GMR.PF, resulting in a range of phenotypes, from a mild enhancement of the rough eye phenotype to lethality.

(Ritson et al., 2010)

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 (3)

Reported As

Symbol Synonym

Hsap\TARDBP^{NLSmut.Scer\UAS.T:Hsap\MYC}

Hsap\TARDBP^{NLSmut.Scer\UAS}

Hsap\TARDBP^{NLSmut.UAS.Tag:MYC}

Name Synonyms

Secondary FlyBase IDs

References (3)

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