FlyBase Allele Report: Hsap\TARDBP[D169G.UAS.cVBa]

General Information

Symbol

Hsap\TARDBP^{D169G.UAS.cVBa}

Species

H. sapiens

Name

FlyBase ID

FBal0320784

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTARDBP.D169G}

Key Links

Transgenic product class

missense_variant

(Vanden Broeck et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Vanden Broeck et al., 2015)

Mutagen

in vitro construct

(Vanden Broeck et al., 2015)

Progenitor genotype

Carried in construct

P{UAS-hTARDBP.D169G}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\TARDBP carrying the amino acid replacement D169G (a mutation identified in a single sporadic ALS patient).

(Vanden Broeck et al., 2015)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates amyotrophic lateral sclerosis type 10

modeled by TBPH^Δ142, TBPH^Δ23

(Vanden Broeck et al., 2015)

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

The D169G mutation was identified in only one patient with sporadic ALS; the line with this mutation in flies rescues phenotypes similar to wild type protein.

(Vanden Broeck et al., 2015)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Vanden Broeck et al., 2015)

TARDBP:p.Asp169Gly

(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_5233

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage, with Scer\GAL4^nSyb.PU

(Vanden Broeck et al., 2015)

decreased cell number | adult stage, with Scer\GAL4^nSyb.PU

(Vanden Broeck et al., 2015)

Phenotype Manifest In

Kenyon cell | adult stage, with Scer\GAL4^nSyb.PU

(Vanden Broeck et al., 2015)

Detailed Description

Statement

Reference

Expression of Hsap\TARDBP^{D169G.Scer\UAS.cVBa} driven by Scer\GAL4^GMR.PU does not induce a rough eye phenotype and expression driven by Scer\GAL4^nSyb.PU or Scer\GAL4^elav-C155 does not cause wing expansion defects. With expression driven by Scer\GAL4^nSyb.PU, there is a significant decrease in the number Kenyon cells in 3 (but not 50) day old flies, compared to controls; there are no changes in the length or thickness of the alpha and beta lobes in 3 or 50 day old flies, compared to controls. Expression driven by Scer\GAL4^CCAP.PP results in predominantly nuclear localization of the protein, comparable with wild type.

(Vanden Broeck et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Scer\GAL4^nSyb.PU/Hsap\TARDBP^{D169G.UAS.cVBa} is a suppressor | partially of lethal - all die before end of P-stage phenotype of TBPH^Δ142/TBPH^Δ23

(Vanden Broeck et al., 2015)

Scer\GAL4^nSyb.PU/Hsap\TARDBP^{D169G.UAS.cVBa} is a suppressor of decreased cell number phenotype of TBPH^Δ142/TBPH^Δ23

(Vanden Broeck et al., 2015)

Hsap\TARDBP^{D169G.UAS.cVBa}, Scer\GAL4^CCAP.PP is a suppressor of decreased cell number phenotype of Scer\GAL4^CCAP.PP, TBPH^KK108354

(Vanden Broeck et al., 2015)

Other

Statement

Reference

Hsap\TARDBP^{D169G.UAS.cVBa}, Scer\GAL4^nSyb.PU, TBPH^Δ142/TBPH^Δ23 has short lived phenotype

(Vanden Broeck et al., 2015)

Phenotype Manifest In

Suppressor of

Statement

Reference

Scer\GAL4^nSyb.PU/Hsap\TARDBP^{D169G.UAS.cVBa} is a suppressor of adult CCAP neuron phenotype of TBPH^Δ142/TBPH^Δ23

(Vanden Broeck et al., 2015)

Hsap\TARDBP^{D169G.UAS.cVBa}, Scer\GAL4^CCAP.PP is a suppressor of adult CCAP neuron phenotype of Scer\GAL4^CCAP.PP, TBPH^KK108354

(Vanden Broeck et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\TARDBP^{D169G.Scer\UAS.cVBa} driven by Scer\GAL4^nSyb.PU partially rescues pupal lethality (around 50% of flies expected by a full rescue eclose) and suppresses the loss of bursicon neurons in TBPH^Δ142/TBPH^Δ23 or Scer\GAL4^nSyb.PU>TBPH^KK108354 mutants. However, the median lifespan of surviving TBPH^Δ142/TBPH^Δ23 flies with expression of Hsap\TARDBP^{D169G.Scer\UAS.cVBa} is shorter than in controls.

(Vanden Broeck et al., 2015)

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^{D169G.Scer\UAS.cVBa}

Hsap\TARDBP^{D169G.UAS.cVBa}

TARDBP^p.D169G

(Vanden Broeck et al., 2015)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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