FlyBase Allele Report: Dmel\TBPH[Q367X]

General Information

Symbol

Dmel\TBPH^Q367X

Species

D. melanogaster

Name

FlyBase ID

FBal0314153

Feature type

allele

Associated gene

Dmel\TBPH

Associated Insertion(s)

Carried in Construct

Also Known As

dTDP-43^Q367X

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Lu et al., 2009)

Mutagen

Progenitor genotype

Cytology

Description

Nucleotide substitution: G?A.

(Lu et al., 2009)

Amino acid replacement: Q367term.

(Lu et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:23,860,174..23,860,174 [-]

Nucleotide change:

C23860174T

Reported nucleotide change:

G?A

Amino acid change:

Reported amino acid change:

Q367term

Comment:

The nucleotide substitution was reported with respect to the non-coding strand.

(Lu et al., 2009)

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

(Donde et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 10

is ameliorated by Atg7^UAS.cUa

(Donde et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

anterior postalar bristle | increased number

(Li et al., 2013)

anterior postalar bristle | increased number (with TBPH^Δ142)

(Li et al., 2013)

dendrite | cell autonomous | somatic clone | third instar larval stage

(Lu et al., 2009)

dendrite | third instar larval stage

(Lu et al., 2009)

dendrite | third instar larval stage, with Scer\GAL4²²¹, TBPH^GD6943

(Lu et al., 2009)

dorsocentral bristle | increased number

(Li et al., 2013)

dorsocentral bristle | increased number (with TBPH^Δ142)

(Li et al., 2013)

embryonic abdominal dorsal sensory organ precursor cluster | embryonic stage

(Li et al., 2013)

larval dorsal multidendritic neuron ddaE | cell autonomous | somatic clone | third instar larval stage

(Lu et al., 2009)

larval dorsal multidendritic neuron ddaE | third instar larval stage

(Lu et al., 2009)

larval dorsal multidendritic neuron ddaE | third instar larval stage, with Scer\GAL4²²¹, TBPH^GD6943

(Lu et al., 2009)

larval dorsal multidendritic neuron ddaF | third instar larval stage

(Lu et al., 2009)

larval dorsal multidendritic neuron ddaF | third instar larval stage, with Scer\GAL4²²¹, TBPH^GD6943

(Lu et al., 2009)

mechanosensory neuron | increased number (with TBPH^Δ142)

(Li et al., 2013)

scutellar bristle | increased number

(Li et al., 2013)

scutellar bristle | increased number (with TBPH^Δ142)

(Li et al., 2013)

wing margin bristle | increased number

(Li et al., 2013)

Detailed Description

Statement

Reference

TBPH^Q367X/TBPH^Q367X mutant adults (with higher penetrance in females than males) have an increase in supernumerary large sensory bristles on the mesothoracic tergum, most often on the scutellum, but some show supernumerary bristles at the anterior postalar or dorsocentral bristle positions; there are also some flies that show supernumerary sensory bristles on the anterior wing margin, and some embryos show additional sensory neurons in the abdominal dorsal cluster.

TBPH^Q367X/+ mutant adults exhibit supernumerary bristles on the mesothoracic tergum at low penetrance, usually scutellar bristles.

A subset of TBPH^Q367X/TBPH^Δ142 mutant adults (with higher penetrance in females than males) display supernumerary anterior postalar bristles (most common phenotype when reared at 18[o]C or 25[o]C), supernumerary scutellar bristles (most common phenotype when reared at 30[o]C) or, in a small fraction of cases, supernumerary dorsocentral bristles. supernumerary bristles in mutants are accompanied by supernumerary sensory neurons. In general, supernumerary bristles are observed more frequently when flies are grown at 18[o]C than when reared at 25[o]C or 30[o]C.

(Li et al., 2013)

There is a significant decrease in dendritic branching in the ddaE and ddaF neurons of homozygous third instar larvae.

Expression of TBPH^GD6943 under the control of Scer\GAL4²²¹ in a TBPH^Q367X/+ background results in a significant decrease in dendritic branching in the ddaE and ddaF neurons of third instar larvae.

Homozygous single cell ddaE mutant clones show a significant reduction in the number of dendritic ends compared to controls.

(Lu et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

TBPH^Q367X has visible | adult stage phenotype, enhanceable by mir-9a^J22/mir-9a[+]

(Li et al., 2013)

TBPH^Q367X has visible | adult stage phenotype, enhanceable by mir-9a^E39/mir-9a[+]

(Li et al., 2013)

Suppressed by

Statement

Reference

TBPH^Q367X has visible | adult stage phenotype, suppressible | partially by mir-9a^UAS.cLa/Scer\GAL4^vg.PU

(Li et al., 2013)

Phenotype Manifest In

Enhanced by

Statement

Reference

TBPH^Q367X has scutellar bristle | increased number phenotype, enhanceable by mir-9a^J22/mir-9a[+]

(Li et al., 2013)

TBPH^Q367X has scutellar bristle | increased number phenotype, enhanceable by mir-9a^E39/mir-9a[+]

(Li et al., 2013)

Suppressed by

Statement

Reference

TBPH^Q367X has scutellar bristle | increased number phenotype, suppressible | partially by mir-9a^UAS.cLa/Scer\GAL4^vg.PU

(Li et al., 2013)

TBPH^Q367X has scutellar bristle | increased number phenotype, suppressible | partially by sens^E58/sens[+]

(Li et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

mir-9a^E39/+ or mir-9a^J22/+ significantly enhances the supernumerary scutellar bristle phenotype of TBPH^Q367X/+ flies.

Expression of mir-9a^Scer\UAS.cLa under the control of Scer\GAL4^vg.PU partially rescues the supernumerary scutellar bristle phenotype of TBPH^Q367X/TBPH^Q367X mutants.

The presence of the sens^E58/+ mutation partially rescues the supernumerary bristle phenotype of TBPH^Q367X/TBPH^Q367X mutants.

(Li et al., 2013)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

TBPH^Q367X/TBPH^Δ142 is rescued by Scer\GAL4^vg.PU/TBPH^UAS.cLu

(Li et al., 2013)

Comments

Expression of TBPH^Scer\UAS.cLu under the control of Scer\GAL4^vg.PU rescues the supernumerary anterior postalar bristle phenotype of TBPH^Q367X/TBPH^Δ142 mutants.

(Li et al., 2013)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

TBPH^Q367X

(Donde et al., 2020, Yuva-Aydemir et al., 2019)

TDP-43 Q367X

(Rumpf et al., 2014)

dTDP-43^Q367X

(Li et al., 2013, Lu et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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