FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\TBPHΔ142
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General Information
Symbol
Dmel\TBPHΔ142
Species
D. melanogaster
Name
FlyBase ID
FBal0221489
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dTDP-43Δ142
Key Links
Genomic Maps

Nature of the Allele
Associated Insertion(s)
Cytology
Description

Imprecise excision of the progenitor insertion, resulting in a deletion of genomic DNA from coordinates 2R:19749289-19750093 . A portion of the original insertion remains.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Comment:

An 805 bp deletion resulting from the excision of P{EPgy2}TBPHEY10530. A 1138bp piece of the P element remains at the excision site.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 )
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

TBPHΔ142/TBPHΔ23 flies have significantly fewer CCAP/bursicon neurons (counted in the ventral nerve cord) than controls.

TBPHΔ23/TBPHΔ142 exhibit an increase in the top size of synaptic T-bars and an increase in the number of tethered vesicles. The EJC amplitude and quantal content is not affected in these mutants.

A majority of TBPHΔ142/TBPHΔ142 mutant adults (with higher penetrance in females than males) display supernumerary anterior postalar bristles, a small fraction show supernumerary scutellar or supernumerary dorsocentral bristles.

A subset of TBPHQ367X/TBPHΔ142 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.

The NMJ morphology of TBPHΔ142 mutant first instar larvae is similar to wild type. Presynaptic ramifications and muscular insertions appear normal in the mutant motor axons. In contrast, significant abnormalities are observed in second instar larval NMJs, and these are even more evident at the third instar larval stage. Muscle development appears normal in TBPHΔ142 mutant flies: no differences in organ growth, cytoskeletal organisation or postsynaptic differentiation are observed.

TBPHΔ142 mutant synaptic boutons on muscles 6 and 7 in third instar larvae appear deformed and are irregularly spaced along the terminal axons with several fused or elongated silhouettes and clear loss of their characteristic round-smooth shape. Microtubule stability is significantly reduced in the distal boutons compared to controls.

Homozygotes survive embryogenesis and more than 60% reach the pupal stage. However, only 16% of homozygotes eclose, with 32% becoming trapped in the pupal case. Homozygous adults have dramatic locomotive defects, in both walking and climbing assays.

Homozygous adults have a reduced lifespan compared to controls.

The number of type 1b and 1s boutons and the number of synaptic branches at the neuromuscular junction of muscles 6 and 7 is reduced in homozygous larvae compared to controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
NOT suppressed by
Suppressor of
Statement
Reference
Other
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

Expression of Map205GD8458 under the control of Scer\GAL4nSyb.PU suppresses the late pupal lethality seen in TBPHΔ142/TBPHΔ23 mutants.

Xenogenetic Interactions
Statement
Reference

Expression of Hsap\TARDBPG287S.Scer\UAS.cVBa, Hsap\TARDBPA315T.Scer\UAS.cVBa, Hsap\TARDBPD169G.Scer\UAS.cVBa, Hsap\TARDBPA90V.Scer\UAS.cVBa or Hsap\TARDBPScer\UAS.cVBa driven by Scer\GAL4nSyb.PU equally partially rescue pupal lethality (around 50% of flies expected by a full rescue eclose) in TBPHΔ142/TBPHΔ23 mutants. However, the median lifespan of surviving TBPHΔ142/TBPHΔ23 flies with expression of Hsap\TARDBPA90V.Scer\UAS.cVBa, Hsap\TARDBPA315T.Scer\UAS.cVBa or Hsap\TARDBPG287S.Scer\UAS.cVBa is significantly lower than flies with expression of Hsap\TARDBPD169G.Scer\UAS.cVBa or Hsap\TARDBPScer\UAS.cVBa (driven by Scer\GAL4nSyb.PU); all genotypes display shorter lifespan than controls. Expression (driven by Scer\GAL4nSyb.PU) of Hsap\TARDBPD169G.Scer\UAS.cVBa or Hsap\TARDBPScer\UAS.cVBa (but not Hsap\TARDBPA90V.Scer\UAS.cVBa, Hsap\TARDBPA315T.Scer\UAS.cVBa or Hsap\TARDBPG287S.Scer\UAS.cVBa) suppresses the loss of bursicon neurons seen in TBPHΔ142/TBPHΔ23 mutants.

Heterozygous TBPHΔ142 causes a small increase in the lifespan of Scer\GAL4D42>Hsap\TARDBPScer\UAS.cHa flies.

Complementation and Rescue Data
Comments

Expression of TBPHScer\UAS.cLu under the control of Scer\GAL4vg.PU rescues the supernumerary anterior postalar bristle phenotype of TBPHQ367X/TBPHΔ142 mutants.

Expression of TBPHScer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4D42 rescues the defects in microtubule stability seen in TBPHΔ142 mutant distal boutons.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (6)
References (16)