FlyBase Allele Report: Hsap\TARDBP[UAS.cHa]

General Information

Symbol

Hsap\TARDBP^UAS.cHa

Species

H. sapiens

Name

Saccharomyces cerevisiae UAS construct a of Hanson

FlyBase ID

FBal0294176

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-TDP-43.H}

Also Known As

UAS-TDP-43

Key Links

Transgenic product class

wild_type

(Hanson et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Hanson et al., 2010)

Mutagen

in vitro construct

(Hanson et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-TDP-43.H}

Cytology

Description

UASt regulatory sequences drive expression of wild-type Hsap\TARDBP.

(Hanson et al., 2010)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\TARDBP

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

(Deshpande et al., 2016, Zhan et al., 2013, Kim et al., 2012, Hanson et al., 2010)

model of amyotrophic lateral sclerosis type 10

CEA

(Balasubramanian and Srinivasan, 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis

is ameliorated by Dad^j1E4

(Deshpande et al., 2016)

is ameliorated by Rab11^N124I.UAS

(Deshpande et al., 2016)

is exacerbated by Hsap\UBQLN1^UAS.cHa

(Hanson et al., 2010)

is ameliorated by Itpr^90B.0

(Kim et al., 2012)

is ameliorated by Itpr^ug3

(Kim et al., 2012)

is ameliorated by Itpr^sv35

(Kim et al., 2012)

is ameliorated by TBPH^Δ142

(Zhan et al., 2013)

is ameliorated by stg^EY12388

(Zhan et al., 2013)

model of amyotrophic lateral sclerosis type 10

is ameliorated by Itpr^90B.0

(Balasubramanian and Srinivasan, 2020)

is ameliorated by Itpr^ug3

(Balasubramanian and Srinivasan, 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior, with Scer\GAL4^Toll-6-D42

(Hanson et al., 2010)

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

(Balasubramanian and Srinivasan, 2020, Kim et al., 2012)

abnormal locomotor behavior | third instar larval stage, with Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

short lived, with Scer\GAL4^Appl.PU

(Deshpande et al., 2016)

short lived, with Scer\GAL4^Toll-6-D42

(Balasubramanian and Srinivasan, 2020, Zhan et al., 2013, Kim et al., 2012, Hanson et al., 2010)

short lived | RU486 conditional, with Scer\GAL4^{elav.Switch.PO}

(Zhan et al., 2013)

some die during immature adult stage | recessive, with Scer\GAL4^Toll-6-D42

(Hanson et al., 2010)

visible | progressive, with Scer\GAL4^GMR.PU

(Hanson et al., 2010)

Phenotype Manifest In

embryonic/larval neuromuscular junction | third instar larval stage, with Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

eye, with Scer\GAL4^GMR.PU

(Hanson et al., 2010)

NMJ bouton | third instar larval stage, with Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

rhabdomere, with Scer\GAL4^GMR.PU

(Hanson et al., 2010)

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

(Hanson et al., 2010)

Detailed Description

Statement

Reference

Adults expressing Hsap\TARDBP^UAS.cHa under the control of Scer\GAL4^Toll-6-D42 show decreased climbing activity, as compared to controls.

(Balasubramanian and Srinivasan, 2020)

Expression of Hsap\TARDBP^Scer\UAS.cHa driven by Scer\GAL4^Appl.PU results in a decreased adult life span compared to controls. Expression under Scer\GAL4^VGlut.PD causes defects in the neuromuscular junction (NMJ) morphology: reduced number of boutons, an increase in the proportion of small boutons, decrease in the NMJ area as well as in the length of the longest NMJ branch. When co-expressed with tkv^{Scer\UAS.RD.T:Disc\RFP-mCherry} a slight increase in the retrograde axonal transport and decreased stall duration of the mCherry-positive particles is observed along with their increased mobility over longer distances compared to controls. The mobility of Snx16-GFP particles (expressed using Snx16^{Scer\UAS.T:Avic\GFP}) is however not affected. Expression of Hsap\TARDBP^Scer\UAS.cHa under the Scer\GAL4^VGlut.PD driver also strongly inhibits larval crawling.

(Deshpande et al., 2016)

Hsap\TARDBP^Scer\UAS.cHa expression under the control of Scer\GAL4^Toll-6-D42 or under the combined control of Scer\GAL4^{elav.Switch.PO} and RU486 treatment leads to a reduction in adult lifespan, as compared to controls.

(Zhan et al., 2013)

Motor neuron-directed expression of Hsap\TARDBP^Scer\UAS.cHa under the control of Scer\GAL4^D42 leads to a rapid-onset paralysis with around 90% of flies succumbing between 3 and 4 weeks post-eclosion.

(Kim et al., 2012)

Flies expressing Scer\GAL4^GMR.PU>Hsap\TARDBP^Scer\UAS.cHa exhibit depigmentation of the eye that increases with age. In these flies, the regular pattern of seven rhabdomeres seen in control flies is severely disrupted. The most severe cases display an almost complete loss of eye pigmentation and widespread necrosis.

2-3 weeks after eclosion flies expressing Hsap\TARDBP^Scer\UAS.cHa in motor neurons under the control of Scer\GAL4^D42 display movement defects and ultimately paralysis, resulting in death within days of the onset of initial symptoms. The mutants survive approximately half as long as controls.

In addition of having reduced survival, Scer\GAL4^D42>Hsap\TARDBP^Scer\UAS.cHa flies also exhibit eclosion defects. As well as complete eclosion failure, a number of flies die during eclosion with part of their body protruding from the pupal case. Some Scer\GAL4^D42>Hsap\TARDBP^Scer\UAS.cHa flies have a shriveled wing phenotype.

(Hanson et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, enhanceable by Hsap\UBQLN1^UAS.cHa, Scer\GAL4^Toll-6-D42

(Hanson et al., 2010)

NOT Enhanced by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by BobA^f03024

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by Tom⁹⁹

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by Hey^f06656

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by Df(2R)Exel6055/+

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by Rs1^k09514

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by Pabp2^KG02359

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-enhanceable by Pabp2⁰¹

(Zhan et al., 2013)

Suppressed by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by NUCB1^NIG.32190R/Itpr^90B.0, Scer\GAL4^Toll-6-D42

(Balasubramanian and Srinivasan, 2020)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by NUCB1^NIG.32190R/Itpr^ug3, Scer\GAL4^Toll-6-D42

(Balasubramanian and Srinivasan, 2020)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by NUCB1^c01508/Itpr^90B.0/NUCB1[+]

(Balasubramanian and Srinivasan, 2020)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has abnormal locomotor behavior | adult stage phenotype, suppressible by NUCB1^c01508/Itpr^ug3/NUCB1[+]

(Balasubramanian and Srinivasan, 2020)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by Dad^j1E4/Dad^j1E4

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by Dad^j1E4/Dad[+]

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal neuroanatomy | third instar larval stage phenotype, suppressible | partially by Rab11^N124I.UAS, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal locomotor behavior | third instar larval stage phenotype, suppressible | partially by Rab11^N124I.UAS, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by TBPH^Δ142/TBPH[+]

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by stg^EY12388, Scer\GAL4^Toll-6-D42

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by Delta^RevF10/Ser^RX82

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by E(spl)m8-HLH^rv1

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by Df(2R)ED1735/+

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by +/Df(2R)Exel7094

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by Df(2R)Exel7095/+

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by Df(2R)ED1725/+

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, suppressible by Nup50^KG09557

(Zhan et al., 2013)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by NUCB1^c01508/Itpr^ug3/NUCB1[+]

(Balasubramanian and Srinivasan, 2020)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by NUCB1^NIG.32190R/Itpr^ug3, Scer\GAL4^Toll-6-D42

(Balasubramanian and Srinivasan, 2020)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Snx16^3A.UAS.GFP/tkv^{Q199D.UAS.Tag:HA}, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Rab5^S43N.UAS, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by Snx16^3A.UAS.GFP/tkv^{Q199D.UAS.Tag:HA}, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Tom⁹⁹

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Hey^f06656

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by numb^UAS.cOa, Scer\GAL4^Toll-6-D42

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Df(2R)Exel6055/+

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Rs1^k09514

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Pabp2^KG02359

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Pabp2⁰¹

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by BacA\p35^UAS.cUa, Scer\GAL4^Toll-6-D42

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by Diap1^UAS.cUa, Scer\GAL4^Toll-6-D42

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by gwl^EP515, Scer\GAL4^Toll-6-D42

(Zhan et al., 2013)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has short lived phenotype, non-suppressible by BobA^f03024

(Zhan et al., 2013)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^Toll-6-D42 has wing phenotype, enhanceable by Hsap\UBQLN1^UAS.cHa, Scer\GAL4^Toll-6-D42

(Hanson et al., 2010)

Suppressed by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible | partially by Dad^j1E4/Dad^j1E4

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has NMJ bouton | third instar larval stage phenotype, suppressible | partially by Dad^j1E4/Dad^j1E4

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has NMJ bouton | third instar larval stage phenotype, suppressible | partially by Dad^j1E4/Dad[+]

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has embryonic/larval neuromuscular junction | third instar larval stage phenotype, suppressible | partially by Rab11^N124I.UAS, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has NMJ bouton | third instar larval stage phenotype, suppressible | partially by Rab11^N124I.UAS, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-suppressible by Dad^j1E4/Dad[+]

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has NMJ bouton | third instar larval stage phenotype, non-suppressible by Snx16^3A.UAS.GFP/tkv^{Q199D.UAS.Tag:HA}, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Hsap\TARDBP^UAS.cHa, Scer\GAL4^VGlut1.PD has NMJ bouton | third instar larval stage phenotype, non-suppressible by Rab5^S43N.UAS, Scer\GAL4^VGlut1.PD

(Deshpande et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The neuromuscular junction growth defects (reduced number of NMJ boutons, decreased NMJ area, length of the longest NMJ branch) as well as larval crawling defects characteristic for third instar larvae expressing Hsap\TARDBP^Scer\UAS.cHa under the control of Scer\GAL4^VGlut.PD can be partially rescued by combination with Dad^j1E4 in homozygous state. None of the NMJ growth aberrations can be restored by combination with just single copy of Dad^j1E4, except the highly increased fraction of small boutons on the main NMJ axis (which is slightly increased also in Dad^j1E4/+ larvae alone).

The neuromuscular junction growth defects characteristic for third instar larvae expressing Hsap\TARDBP^Scer\UAS.cHa under the control of Scer\GAL4^VGlut.PD (reduced number of NMJ boutons, decreased NMJ area, length of the longest NMJ branch) as well as larval crawling defects and increased tkv-mCherry particle mobility (expressed using the tkv^{Scer\UAS.RD.T:Disc\RFP-mCherry} transgene) can be partially rescued by co-expression of Rab11^{N124I.Scer\UAS}.

The reduced number of boutons on neuromuscular junctions as well as crawling defects observed in third instar larvae expressing Hsap\TARDBP^Scer\UAS.cHa under the Scer\GAL4^VGlut.PD driver cannot be restored by either by simultaneous co-expression of Snx16^{3A.Scer\UAS.T:Avic\GFP} and tkv^{Q199D.Scer\UAS.T:Ivir\HA1}. Co-expressing Rab5^{S43N.Scer\UAS} also fails to restore the neuromuscular junction growth defects.

(Deshpande et al., 2016)

Heterozygous TBPH^Δ142 causes a small increase in the lifespan of Scer\GAL4^D42>Hsap\TARDBP^Scer\UAS.cHa flies.

stg^EY12388 appears to extend the lifespan of a subset of Scer\GAL4^D42>Hsap\TARDBP^Scer\UAS.cHa flies. Further analysis reveals that the lifespan extension is restricted to female flies.

Nup50^KG09557 seems to preferentially increase maximum lifespan of Scer\GAL4^D42>Hsap\TARDBP^Scer\UAS.cHa flies.

(Zhan et al., 2013)

Itp-r83A^ug3, Itp-r83A^sv35 or Itp-r83A^90B.0 each partially suppresses the climbing defect of 15-day old Scer\GAL4^Toll-6-D42>Hsap\TARDBP^Scer\UAS.cHa flies. Itp-r83A^ug3 or Itp-r83A^sv35 also extend the median survival of Scer\GAL4^Toll-6-D42>Hsap\TARDBP^Scer\UAS.cHa flies by 6.5 days or 5.5 days, respectively, but neither extends the lifespan of wild-type flies.

(Kim et al., 2012)

Flies co-expressing Hsap\UBQLN1^Scer\UAS.cHa and Hsap\TARDBP^Scer\UAS.cHa both under the control of Scer\GAL4^D42 show reduced survival as compared with Scer\GAL4^D42>Hsap\TARDBP^Scer\UAS.cHa flies.

Flies co-expressing Hsap\UBQLN1^Scer\UAS.cHa and Hsap\TARDBP^Scer\UAS.cHa both under the control of Scer\GAL4^D42 have higher rates of wing malformation than the respected single Hsap\TARDBP^Scer\UAS.cHa-transgenic line.

(Hanson 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^Scer\UAS.cHa

Hsap\TARDBP^UAS.cHa

Name Synonyms

Saccharomyces cerevisiae UAS construct a of Hanson

Secondary FlyBase IDs

References (6)

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