FlyBase Allele Report: Hsap\TARDBP[M337V.UAS.x10.Tag:FLAG]

General Information

Symbol

Hsap\TARDBP^{M337V.UAS.x10.Tag:FLAG}

Species

H. sapiens

Name

FlyBase ID

FBal0265767

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{10xUAS-TDP-43.M337V.FLAG}

Also Known As

TDP-43^M337V

Key Links

Transgenic product class

missense_variant

(Wang et al., 2011)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Wang et al., 2011)

Mutagen

in vitro construct

(Wang et al., 2011)

Progenitor genotype

Carried in construct

P{10xUAS-TDP-43.M337V.FLAG}

Cytology

Description

Ten copies of UAS regulatory sequences drive expression of a M337V mutant Hsap\TARDBP cDNA fused to an N-terminal Tag:FLAG epitope tag.

(Wang et al., 2011)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\TARDBP

Tagged with

Tag:FLAG

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates amyotrophic lateral sclerosis

modeled by TBPH^Δ23, TBPH¹

(Baldwin et al., 2016)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Wang et al., 2011)

TARDBP:p.Met337Val

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

amyotrophic lateral sclerosis 10 with or without frontotemporal dementia

External database links

ClinVar: TARDBP_5228

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage | progressive, with Scer\GAL4^Toll-6-D42

(Baldwin et al., 2016)

abnormal locomotor behavior | third instar larval stage, with Scer\GAL4^Toll-6-D42

(Baldwin et al., 2016)

viable, with Scer\GAL4^Toll-6-D42

(Baldwin et al., 2016)

Phenotype Manifest In

embryonic/larval motor neuron | third instar larval stage, with Scer\GAL4^CCAP.PU

(Baldwin et al., 2016)

Detailed Description

Statement

Reference

The expression of Hsap\TARDBP^{M337V.Scer\UAS.x10.T:Zzzz\FLAG} under the control of Scer\GAL4^CCAP.PI leads to a decrease in axonal transport of vesicles (i.e. a significant decrease in retrograde transport and a significant increase in the stationary fraction of NPY-positive vesicles), but not of mitochondria, in third instar larval motor neurons, as compared to controls. Expression under the control of Scer\GAL4^Toll-6-D42 leads to a progressive decrease in adult locomotion (in climbing assays) and to a significant in larval locomotion (in crawling assays), but has no significant effect in viability, as compared to controls.

(Baldwin et al., 2016)

Overexpression of Hsap\TARDBP^{M337V.Scer\UAS.x10.T:Zzzz\FLAG} in motor neurons via Scer\GAL4^Rapgap1-OK6 does not results in neuromuscular junction (NMJ) expansion.

(Wang et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\TARDBP^{M337V.UAS.x10.Tag:FLAG}/Scer\GAL4^Toll-6-D42 is a suppressor of partially lethal - majority die phenotype of TBPH¹/TBPH^Δ23

(Baldwin et al., 2016)

Hsap\TARDBP^{M337V.UAS.x10.Tag:FLAG}/Scer\GAL4^Toll-6-D42 is a suppressor of abnormal locomotor behavior | adult stage phenotype of TBPH¹/TBPH^Δ23

(Baldwin et al., 2016)

Hsap\TARDBP^{M337V.UAS.x10.Tag:FLAG}/Scer\GAL4^Toll-6-D42 is a suppressor of abnormal locomotor behavior | third instar larval stage phenotype of TBPH¹/TBPH^Δ23

(Baldwin et al., 2016)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\TARDBP^{M337V.UAS.x10.Tag:FLAG}/Scer\GAL4^CCAP.PU is a suppressor of embryonic/larval motor neuron | third instar larval stage phenotype of TBPH¹/TBPH^Δ23

(Baldwin et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The expression of Hsap\TARDBP^{M337V.Scer\UAS.x10.T:Zzzz\FLAG} under the control of Scer\GAL4^Toll-6-D42 rescues the semi-lethality and the decreased third instar larval crawling capacity, but not the decreased adult locomotor capacity, observed in TBPH¹/TBPH^Δ23 transheterozygotes. Scer\GAL4^CCAP.PI-driven expression also partially rescues the decreased axonal transport of mitochondria in TBPH¹/TBPH^Δ23 transheterozygous third instar larval motor neurons.

(Baldwin et al., 2016)

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^{M337V.Scer\UAS.x10.T:Zzzz\FLAG}

Hsap\TARDBP^{M337V.UAS.x10.Tag:FLAG}

TDP-43^M337V

(Baldwin et al., 2016)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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