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

General Information

Symbol

Hsap\TARDBP^Q331K.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0270164

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-TDP-43.Q331K}

Also Known As

UAS-TDP-43 Q331K

Key Links

Transgenic product class

missense_variant

(Elden et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Elden et al., 2010)

Mutagen

in vitro construct

(Elden et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-TDP-43.Q331K}

Cytology

Description

UAS regulatory sequences drive expression of an Amyotrophic Lateral Sclerosis (ALS)-linked mutant form (Q331K) of Hsap\TARDBP.

(Elden et al., 2010)

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 ( 1 )

Disease

Evidence

References

model of amyotrophic lateral sclerosis

CEA

(Elden et al., 2010)

model of amyotrophic lateral sclerosis type 10

CEA

(Zhao et al., 2023, Solomon et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 10

is ameliorated by Rack1^HMS01173

(Zhao et al., 2023)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Elden et al., 2010)

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

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

(Elden et al., 2010)

visible | adult stage, with Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Detailed Description

Statement

Reference

Expression of Hsap\TARDBP^{Q331K.Scer\UAS} in motor neurons under the control of Scer\GAL4^D42 leads to a progressive loss of motility.

(Elden et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Hsap\TARDBP^Q331K.UAS, Scer\GAL4^GMR.PS has visible | adult stage phenotype, non-enhanceable by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^Q331K.UAS, Scer\GAL4^GMR.PS has visible | adult stage phenotype, non-suppressible by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\TARDBP^Q331K.UAS, Scer\GAL4^GMR.PS has eye phenotype, non-enhanceable by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

NOT suppressed by

Statement

Reference

Hsap\TARDBP^Q331K.UAS, Scer\GAL4^GMR.PS has eye phenotype, non-suppressible by Ero1L^HMC05709, Scer\GAL4^GMR.PS

(Yeewa et al., 2024)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

79590

w¹¹¹⁸; P{UAS-TDP-43.Q331K}18S

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\TARDBP^{Q331K.Scer\UAS}

Hsap\TARDBP^Q331K.UAS

Name Synonyms

Secondary FlyBase IDs

References (9)

Report Sections

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