FlyBase Allele Report: Hsap\TARDBP[Q331K.UAS.cLa]

General Information

Symbol

Hsap\TARDBP^{Q331K.UAS.cLa}

Species

H. sapiens

Name

FlyBase ID

FBal0314155

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTDP-43.Q331K}

Key Links

Transgenic product class

missense_variant

(Lu et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Lu et al., 2009)

Mutagen

in vitro construct

(Lu et al., 2009)

Progenitor genotype

Carried in construct

P{UAS-hTDP-43.Q331K}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\TARDBP containing the amino acid replacement Q331K (this mutation is associated with the disease amyotrophic lateral sclerosis).

(Lu et al., 2009)

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

(Choksi et al., 2014)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis

is exacerbated by dco^UAS.cUa

(Choksi et al., 2014)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Lu et al., 2009)

TARDBP:p.Gln331Lys

(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_5229

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

scutellar bristle | increased number, with Scer\GAL4^vg.PU

(Li et al., 2013)

Detailed Description

Statement

Reference

Expression of Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^GMR.PU does not lead to any obvious eye phenotype.

(Choksi et al., 2014)

Expression of Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^vg.PU results in a subset of flies possessing supernumerary scutellar bristles.

(Li et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has visible phenotype, suppressible by ksr^j5E2/ksr[+]

(Ambegaokar and Jackson, 2011)

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has visible phenotype, suppressible by NC2α^EY18723/NC2alpha[+]

(Ambegaokar and Jackson, 2011)

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has visible phenotype, suppressible by sgg^G0335/sgg[+]

(Ambegaokar and Jackson, 2011)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has visible phenotype, non-suppressible by SdhB^EY12081, Scer\GAL4^GMR.PS

(Ambegaokar and Jackson, 2011)

Other

Statement

Reference

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PU, dco^UAS.cUa has lethal phenotype

(Choksi et al., 2014)

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PU, dco^UAS.cUa has visible phenotype

(Choksi et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has eye phenotype, suppressible by ksr^j5E2/ksr[+]

(Ambegaokar and Jackson, 2011)

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has eye phenotype, suppressible by NC2α^EY18723/NC2alpha[+]

(Ambegaokar and Jackson, 2011)

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has eye phenotype, suppressible by sgg^G0335/sgg[+]

(Ambegaokar and Jackson, 2011)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PS has eye phenotype, non-suppressible by SdhB^EY12081, Scer\GAL4^GMR.PS

(Ambegaokar and Jackson, 2011)

Other

Statement

Reference

Hsap\TARDBP^{Q331K.UAS.cLa}, Scer\GAL4^GMR.PU, dco^UAS.cUa has eye phenotype

(Choksi et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of dco^Scer\UAS.cUa leads to lethality at 25[o]C, or partial lethality and severely de-pigmented rough eyes with patches of necrotic tissue at 18[o]C, in flies at expressing Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^GMR.PU.

(Choksi et al., 2014)

ksr^j5E2 suppresses the eye phenotype seen in flies expressing Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^GMR.PS.

NC2α^EY18723 does not suppress the eye phenotype seen in flies expressing Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^GMR.PS.

Expression of SdhB^EY12081 does not suppress the eye phenotype seen in flies expressing Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^GMR.PS.

One copy of sgg^G0335 suppresses the eye phenotype seen in flies expressing Hsap\TARDBP^{Q331K.Scer\UAS.cLa} under the control of Scer\GAL4^GMR.PS.

(Ambegaokar and Jackson, 2011)

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^{Q331K.Scer\UAS.cLa}

Hsap\TARDBP^{Q331K.UAS.cLa}

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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