FlyBase Allele Report: Hsap\TARDBP[G298S.UAS]

General Information

Symbol

Hsap\TARDBP^G298S.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0299753

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-TARDBP.G298S}

Also Known As

UAS-TDP-43^G298S

Key Links

Transgenic product class

missense_variant

(Ihara et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Ihara et al., 2013)

Mutagen

in vitro construct

(Ihara et al., 2013)

Progenitor genotype

Carried in construct

P{UAS-TARDBP.G298S}

Cytology

Description

UAS regulatory sequences drive expression of a mutant form of Hsap\TARDBP containing the familial-ALS linked mutation G298S.

(Ihara et al., 2013)

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

(Ihara et al., 2013)

model of amyotrophic lateral sclerosis type 10

CEA

(Godfrey et al., 2023, Lehmkuhl et al., 2021, Matsukawa et al., 2021)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 10

is ameliorated by Hsap\NEAT1^UAS.1

(Matsukawa et al., 2021)

is ameliorated by dlp^GLC01658

(Lehmkuhl et al., 2021)

is ameliorated by dlp^UAS.cBa

(Lehmkuhl et al., 2021)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Ihara et al., 2013)

TARDBP:p.Gly298Ser

(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_5232

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy, with Scer\GAL4^GMR.PU

(Ihara et al., 2013)

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

(Matsukawa et al., 2021)

abnormal neuroanatomy | adult stage | progressive, with Hsap\RELA^AD.VT036268, Scer\GAL4^DBD.R21B06

(Godfrey et al., 2023)

abnormal sleep | adult stage | progressive, with Hsap\RELA^AD.VT036268, Scer\GAL4^DBD.R21B06

(Godfrey et al., 2023)

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

(Matsukawa et al., 2021)

decreased cell number | adult stage | progressive, with Hsap\RELA^AD.VT036268, Scer\GAL4^DBD.R21B06

(Godfrey et al., 2023)

decreased size | adult stage, with Scer\GAL4^GMR.PU

(Matsukawa et al., 2021)

short lived, with Hsap\RELA^AD.VT036268, Scer\GAL4^DBD.R21B06

(Godfrey et al., 2023)

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

(Ihara et al., 2013)

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

(Matsukawa et al., 2021)

Phenotype Manifest In

Detailed Description

Statement

Reference

The expression of Hsap\TARDBP^UAS.cIa under the control of Scer\GAL4^GMR.PU leads to a rough eye phenotype, due to severe adult retina defects, with nearly complete loss of photoreceptor neurons.

(Matsukawa et al., 2021)

Flies expressing Hsap\TARDBP^{G298S.Scer\UAS} under the control of Scer\GAL4^GMR.PU exhibit more severe vacuolar retinal degeneration and reduction in retinal thickness compared with wild type Hsap\TARDBP (Hsap\TARDBP^Scer\UAS.cIa).

Expression of Hsap\TARDBP^{G298S.Scer\UAS} in motor neurons under the control of Scer\GAL4^D42 significantly shortens lifespan compared to controls.

(Ihara et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\RELA^AD.VT036268, Hsap\TARDBP^G298S.UAS, Scer\GAL4^DBD.R21B06 has decreased efficacy of memory | adult stage phenotype, suppressible by dlp^UAS.cBa/Hsap\RELA^AD.VT036268, Scer\GAL4^DBD.R21B06