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

General Information

Symbol

Hsap\TARDBP^UAS.Tag:FLAG

Species

H. sapiens

Name

FlyBase ID

FBal0221491

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTDP-43.Flag}

Key Links

Transgenic product class

wild_type

(Feiguin et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Feiguin et al., 2009)

Mutagen

in vitro construct

(Feiguin et al., 2009)

Progenitor genotype

Carried in construct

P{UAS-hTDP-43.Flag}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\TARDBP which is tagged with Tag:FLAG.

(Feiguin et al., 2009)

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 ( 1 )

Disease

Evidence

References

model of amyotrophic lateral sclerosis

CEA with TBPH^Δ23

(Romano et al., 2015)

model of amyotrophic lateral sclerosis type 10

CEC

(Cacciottolo et al., 2019)

CEA

(Ikeda et al., 2024, Farrugia et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates neurodegenerative disease

modeled by TBPH^Δ23

(Feiguin et al., 2009)

model of amyotrophic lateral sclerosis type 10

is exacerbated by Gem3^ΔN.UAS

(Cacciottolo et al., 2019)

is exacerbated by Chchd2^null

(Ikeda et al., 2024)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

decreased rate of adult locomotory behavior, with Scer\GAL4^Toll-6-D42

(Ikeda et al., 2024)

visible | adult stage, with Scer\GAL4^Mhc.PU

(Ikeda et al., 2024)

Phenotype Manifest In

skeletal muscle myofibril, with Scer\GAL4^Mhc.PU

(Ikeda et al., 2024)

wing, with Scer\GAL4^Mhc.PU

(Ikeda et al., 2024)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\TARDBP^UAS.Tag:FLAG, Scer\GAL4^Toll-6-D42 has visible | adult stage phenotype, enhanceable by Chchd2^null/Chchd2^null

(Ikeda et al., 2024)

Hsap\TARDBP^UAS.Tag:FLAG, Scer\GAL4^Toll-6-D42 has decreased rate of adult locomotory behavior phenotype, enhanceable by Chchd2^null/Chchd2^null

(Ikeda et al., 2024)

Enhancer of

Statement

Reference

Hsap\TARDBP^UAS.Tag:FLAG/Scer\GAL4^Toll-6-D42 is an enhancer of short lived phenotype of Chchd2^null

(Ikeda et al., 2024)

Suppressor of

Statement

Reference

Scer\GAL4^repo.PU/Hsap\TARDBP^UAS.Tag:FLAG is a suppressor | partially of abnormal locomotor behavior phenotype of TBPH^Δ23

(Romano et al., 2015)

Hsap\TARDBP^UAS.Tag:FLAG/Scer\GAL4^Toll-6-D42 is a suppressor | partially of short lived phenotype of TBPH^Δ23

(Feiguin et al., 2009)

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

(Feiguin et al., 2009)

Hsap\TARDBP^UAS.Tag:FLAG/Scer\GAL4^elav.PLu is a suppressor of abnormal locomotor behavior | recessive | adult stage phenotype of TBPH^Δ23

(Feiguin et al., 2009)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\TARDBP^UAS.Tag:FLAG, Scer\GAL4^Toll-6-D42 has wing phenotype, enhanceable by Chchd2^null/Chchd2^null

(Ikeda et al., 2024)

Hsap\TARDBP^UAS.Tag:FLAG, Scer\GAL4^Mhc.PU has skeletal muscle myofibril phenotype, enhanceable by Chchd2^null/Chchd2^null

(Ikeda et al., 2024)

Suppressor of

Statement

Reference

Hsap\TARDBP^UAS.Tag:FLAG/Scer\GAL4^Toll-6-D42 is a suppressor of type I bouton | third instar larval stage phenotype of TBPH^Δ23

(Feiguin et al., 2009)

Hsap\TARDBP^UAS.Tag:FLAG/Scer\GAL4^Toll-6-D42 is a suppressor of embryonic/larval neuromuscular junction phenotype of TBPH^Δ23

(Feiguin et al., 2009)

Other

Statement

Reference

Chchd2^null, Hsap\TARDBP^UAS.Tag:FLAG, Scer\GAL4^Mhc.PU has nucleus phenotype

(Ikeda et al., 2024)

Chchd2^null, Hsap\TARDBP^UAS.Tag:FLAG, Scer\GAL4^Mhc.PU has mitochondrion phenotype

(Ikeda et al., 2024)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Scer\GAL4^repo.PU>Hsap\TARDBP^{Scer\UAS.T:Zzzz\FLAG}-expression partially rescues the locomotory defects in TBPH^Δ23 mutants.

(Romano et al., 2015)

Expression of Hsap\TARDBP^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^D42 partially rescues the reduced lifespan of TBPH^Δ23 flies.

Expression of Hsap\TARDBP^{Scer\UAS.T:Zzzz\FLAG} under the control of either Scer\GAL4^elav.PLu or Scer\GAL4^D42 rescues the walking and climbing defects of TBPH^Δ23 flies.

The reduced number of synaptic branches and of type 1s and 1b boutons which are seen at the neuromuscular junction of muscles 6 and 7 in TBPH^Δ23 larvae are rescued by expression of Hsap\TARDBP^{Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^D42.

(Feiguin et al., 2009)

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\TARDBP^{Scer\UAS.T:Zzzz\FLAG}

Hsap\TARDBP^UAS.Tag:FLAG

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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