FlyBase Allele Report: Hsap\TARDBP[A315T.UAS.cVa]

General Information

Symbol

Hsap\TARDBP^{A315T.UAS.cVa}

Species

H. sapiens

Name

UAS A315T construct a of Verstreken

FlyBase ID

FBal0298364

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTARDBP.A315T.V}

Key Links

Transgenic product class

missense_variant

(Miskiewicz et al., 2014)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Miskiewicz et al., 2014)

Mutagen

in vitro construct

(Miskiewicz et al., 2014)

Progenitor genotype

Carried in construct

P{UAS-hTARDBP.A315T.V}

Cytology

Description

UAS regulatory sequences drive expression of mutated Hsap\TARDBP sequences that carry a A315T amino acid substitution.

(Miskiewicz et al., 2014)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Miskiewicz et al., 2014)

TARDBP:p.Ala315Thr

(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_5236

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage, with Scer\GAL4^elav.PU

(Miskiewicz et al., 2014)

abnormal neurophysiology, with Scer\GAL4^Toll-6-D42

(Miskiewicz et al., 2014)

Phenotype Manifest In

synapse, with Scer\GAL4^elav.PU

(Miskiewicz et al., 2014)

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

(Miskiewicz et al., 2014)

synaptic vesicle, with Scer\GAL4^Toll-6-D42

(Miskiewicz et al., 2014)

t-bar, with Scer\GAL4^elav.PU

(Miskiewicz et al., 2014)

t-bar, with Scer\GAL4^Toll-6-D42

(Miskiewicz et al., 2014)

Detailed Description

Statement

Reference

Expression of Hsap\TARDBP^{A315T.cMa.Scer\UAS} under the control of Scer\GAL4^D42 results in an increase in the top size of synaptic T-bars and an increase in the number of tethered vesicles. The EJC amplitude and quantal content is increased in animals expressing Hsap\TARDBP^{A315T.cMa.Scer\UAS}.

Aged flies expressing Hsap\TARDBP^{A315T.cMa.Scer\UAS} under the control of Scer\GAL4^elav.PU show reduced motor activity in an automated 24hr monitoring system as well as reduced negative geotaxis.

(Miskiewicz et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\TARDBP^{A315T.UAS.cVa}, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage phenotype, suppressible by HDAC6^KO/HDAC6[+]

(Miskiewicz et al., 2014)

Hsap\TARDBP^{A315T.UAS.cVa}, Scer\GAL4^elav.PU has abnormal locomotor behavior | adult stage phenotype, suppressible by Hsap\ELP3^UAS.cMa, Scer\GAL4^elav.PU

(Miskiewicz et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\TARDBP^{A315T.UAS.cVa}, Scer\GAL4^elav.PU has t-bar phenotype, suppressible by Hsap\ELP3^UAS.cMa, Scer\GAL4^elav.PU

(Miskiewicz et al., 2014)

Hsap\TARDBP^{A315T.UAS.cVa}, Scer\GAL4^elav.PU has t-bar phenotype, suppressible by HDAC6^KO/HDAC6[+]

(Miskiewicz et al., 2014)

Hsap\TARDBP^{A315T.UAS.cVa}, Scer\GAL4^elav.PU has synapse phenotype, suppressible by Hsap\ELP3^UAS.cMa, Scer\GAL4^elav.PU

(Miskiewicz et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\ELP3^Scer\UAS.cMa suppresses the larger synaptic T-bar size found upon expression of Hsap\TARDBP^{A315T.cMa.Scer\UAS} under the control of Scer\GAL4^elav.PU.

A HDAC6^KO heterozygous background suppresses the larger synaptic T-bar size found upon expression of Hsap\TARDBP^{A315T.cMa.Scer\UAS} under the control of Scer\GAL4^elav.PU.

While overexpression of Hsap\ELP3^Scer\UAS.cMa or heterozygosity for HDAC6^KO alone has no effect on activity or negative geotaxis, these conditions both significant suppress the activity and geotaxis defects in flies expressing Hsap\TARDBP^{A315T.cMa.Scer\UAS} under the control of Scer\GAL4^elav.PU.

(Miskiewicz et al., 2014)

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 (4)

Reported As

Symbol Synonym

Hsap\TARDBP^{A315T.UAS.cVa}

Hsap\TARDBP^{A315T.cMa.Scer\UAS}

Hsap\TARDBP^{A315T.cMa.UAS}

Name Synonyms

UAS A315T construct a of Verstreken

Secondary FlyBase IDs

References (3)

Report Sections

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