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

General Information

Symbol

Hsap\TARDBP^{G298S.UAS.cIb}

Species

H. sapiens

Name

FlyBase ID

FBal0327173

Feature type

allele

Associated gene

Hsap\TARDBP

Associated Insertion(s)

Carried in Construct

P{UAS-hTARDBP.G298S.Ib}

Key Links

Transgenic product class

missense_variant

(Ishiguro et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Ishiguro et al., 2017)

Mutagen

in vitro construct

(Ishiguro et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hTARDBP.G298S.Ib}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\TARDBP with an ALS-linked amino acid substitution (G298S).

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis

is ameliorated by Zzzz\UGGAA^22.UAS

(Ishiguro et al., 2017)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Ishiguro et al., 2017)

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 eye color, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

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

(Ishiguro et al., 2017)

Detailed Description

Statement

Reference

The expression of Hsap\TARDBP^{G298S.Scer\UAS.cIb} under the control of Scer\GAL4^GMR.PS leads to a mild eye phenotype, including retinal degeneration, loss of pigmentation and ommatidial disruption, as compared to controls.

(Ishiguro et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\TARDBP^{G298S.UAS.cIb}, Scer\GAL4^GMR.PS has visible | adult stage phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^{G298S.UAS.cIb}, Scer\GAL4^GMR.PS has abnormal eye color phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\TARDBP^{G298S.UAS.cIb}, Scer\GAL4^GMR.PS has eye phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^{G298S.UAS.cIb}, Scer\GAL4^GMR.PS has ommatidium | adult stage phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^{G298S.UAS.cIb}, Scer\GAL4^GMR.PS has retina | adult stage phenotype, suppressible | partially by Zzzz\UGGAA^22.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The eye defects observed upon the expression of Hsap\TARDBP^{G298S.Scer\UAS.cIb} under the control of Scer\GAL4^GMR.PS are partially suppressed by the co-expression of Zzzz\UGGAA^22.Scer\UAS.

(Ishiguro et al., 2017)

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^{G298S.Scer\UAS.cIb}

Hsap\TARDBP^{G298S.UAS.cIb}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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