FlyBase Allele Report: Dmel\TBPH[N493D.UAS]

General Information

Symbol

Dmel\TBPH^N493D.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0362239

Feature type

allele

Associated gene

Dmel\TBPH

Associated Insertion(s)

Carried in Construct

M{UAS-TBPH.N493D}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Kankel et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Kankel et al., 2020)

Mutagen

in vitro construct

(Kankel et al., 2020)

Progenitor genotype

Carried in construct

M{UAS-TBPH.N493D}

Cytology

Description

UAS regulates expression of TBPH containing a N493D mutation equivalent to N378D in Hsap\TARDBP, which is associated with ALS.

(Kankel et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

TBPH

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:23,859,737..23,859,737 [-]

Nucleotide change:

A23859737G

Amino acid change:

Reported amino acid change:

N493D

Comment:

Analogous N378D mutation in human TARDBP implicated in amyotrophic lateral sclerosis 10; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Kankel et al., 2020)

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 type 10

CEA

(Ho et al., 2024, Kankel et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 10

is ameliorated by Pld^HMS00529

(Kankel et al., 2020)

is ameliorated by Rala^HMS01365

(Kankel et al., 2020)

is ameliorated by Rgl^d03208

(Kankel et al., 2020)

is ameliorated by SF2^HMS00358

(Kankel et al., 2020)

is ameliorated by lilli^JF02087

(Kankel et al., 2020)

is ameliorated by CrebA^UAS.cFa

(Ho et al., 2024)

is ameliorated by Pde4^GL01226

(Ho et al., 2024)

is ameliorated by Pde4^JF02561

(Ho et al., 2024)

is ameliorated by Pka-R2^HMS01393

(Ho et al., 2024)

is ameliorated by Pka-R2^JF02759

(Ho et al., 2024)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Kankel et al., 2020)

TARDBP:p.Asn378Asp

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

amyotrophic lateral sclerosis 10 with or without frontotemporal dementia

External database links

ClinVar: 939152

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | larval stage, with Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

lethal - all die before end of larval stage, with Scer\GAL4^GMR.PU

(Kankel et al., 2020)

lethal - all die before end of larval stage, with Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Phenotype Manifest In

NMJ bouton | decreased number | larval stage, with Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Detailed Description

Statement

Reference

Expressing TBPH^N493D.UAS under the control of Scer\GAL4^VGlut-OK371 leads to larval NMJ showing fewer boutons than controls.

(Kankel et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by SF2^HMS00358, Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by lilli^JF02087/Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by Pld^HMS00529, Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by Rgl^HM05149, Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

NOT suppressed by

Statement

Reference

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has abnormal neuroanatomy | larval stage phenotype, non-suppressible by Klp98A[+]/Klp98A^c05668

(Kankel et al., 2020)

Other

Statement

Reference

Pld^UAS.cRa, Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has abnormal neuroanatomy | larval stage phenotype

(Kankel et al., 2020)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has NMJ bouton | larval stage | decreased number phenotype, suppressible | partially by SF2^HMS00358, Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has NMJ bouton | larval stage | decreased number phenotype, suppressible | partially by lilli^JF02087/Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has NMJ bouton | larval stage | decreased number phenotype, suppressible | partially by Pld^HMS00529, Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has NMJ bouton | larval stage | decreased number phenotype, suppressible | partially by Rgl^HM05149, Scer\GAL4^VGlut1-OK371

(Kankel et al., 2020)

NOT suppressed by

Statement

Reference

Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has NMJ bouton | larval stage | decreased number phenotype, non-suppressible by Klp98A[+]/Klp98A^c05668

(Kankel et al., 2020)

Other

Statement

Reference

Pld^UAS.cRa, Scer\GAL4^VGlut1-OK371, TBPH^N493D.UAS has embryonic/larval neuromuscular junction | larval stage phenotype

(Kankel et al., 2020)

Additional Comments

Genetic Interactions

Statement

Reference

Co-expressing TBPH^N493D.UAS and Pld^UAS.cRa under the control of Scer\GAL4^VGlut-OK371 leads to extensive larval NMJ disorganization.

(Kankel et al., 2020)

Xenogenetic Interactions

Statement

Reference

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 (1)

Reported As

Symbol Synonym

TBPH^N493D.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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