FB2024_03 , released June 25, 2024
Allele: Dmel\tokD427
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General Information
Symbol
Dmel\tokD427
Species
D. melanogaster
Name
FlyBase ID
FBal0212941
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

Amino acid replacement: Q464term.

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

C24744171T

Amino acid change:

Q464term | tok-PA; Q464term | tok-PB; Q464term | tok-PC

Reported amino acid change:

Q464term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In

larval neuromuscular junction & abdominal dorsal acute muscle 1 (with tokK788)

larval neuromuscular junction & abdominal dorsal acute muscle 2 (with tokK788)

larval neuromuscular junction & abdominal dorsal oblique muscle 1 (with tokK788)

larval neuromuscular junction & abdominal dorsal oblique muscle 2 (with tokK788)

larval neuromuscular junction & abdominal lateral transverse muscle 1 (with tokK788)

larval neuromuscular junction & abdominal lateral transverse muscle 2 (with tokK788)

larval neuromuscular junction & abdominal lateral transverse muscle 3 (with tokK788)

larval neuromuscular junction & abdominal lateral transverse muscle 4 (with tokK788)

larval neuromuscular junction & abdominal ventral acute muscle 1 (with tokK788)

larval neuromuscular junction & abdominal ventral acute muscle 2 (with tokK788)

larval neuromuscular junction & abdominal ventral acute muscle 3 (with tokK788)

larval neuromuscular junction & abdominal ventral longitudinal muscle 1 (with tokK788)

larval neuromuscular junction & abdominal ventral longitudinal muscle 2 (with tokK788)

larval neuromuscular junction & abdominal ventral longitudinal muscle 3 (with tokK788)

larval neuromuscular junction & abdominal ventral longitudinal muscle 4 (with tokK788)

larval neuromuscular junction & abdominal ventral oblique muscle 4 (with tokK788)

larval neuromuscular junction & abdominal ventral oblique muscle 5 (with tokK788)

larval neuromuscular junction & abdominal ventral oblique muscle 6 (with tokK788)

Detailed Description
Statement
Reference

The ISN motor nerve of tokK788/tokD427 third instar larvae shows innervation defects at the neuromuscular junction on a number of muscles (percentage of hemisegments with defects on the indicated muscle is listed); 38.1% (muscle 1), 25.0% (muscle 9), 7.1% (muscle 2), 3.6% (muscle 10).

The SNa motor nerve of tokK788/tokD427 third instar larvae shows innervation defects at the neuromuscular junction on a number of muscles (percentage of hemisegments with defects on the indicated muscle is listed); 8.4% (muscle 21), 1.2% (muscle 22), 1.2% (muscle 23), 34.5% (muscle 24).

The ISNb motor nerve of tokK788/tokD427 third instar larvae shows innervation defects at the neuromuscular junction on a number of muscles (percentage of hemisegments with defects on the indicated muscle is listed); 64.3% (muscle 12), 56.0% (muscle 13), 23.9% (muscle 6), 34.6% (muscle 7).

The SNc motor nerve of tokK788/tokD427 third instar larvae shows innervation defects at the neuromuscular junction on a number of muscles (percentage of hemisegments with defects on the indicated muscle is listed); 21.7% (muscle 26), 74.7% (muscle 27), 71.1% (muscle 29).

The ISNd motor nerve of tokK788/tokD427 third instar larvae shows innervation defects at the neuromuscular junction on a number of muscles (percentage of hemisegments with defects on the indicated muscle is listed); 83.4% (muscle 15), 27.4% (muscle 16), 34.6% (muscle 17).

In tokK788/tokD427 third instar larvae, muscles 12 and 13 are often innervated via a dorsoventral projection of the ISN or SNa nerves, which induces the formation of neuromuscular junctions at ectopic sites (in wild-type larvae these muscles are innervated by a ventrodorsal projection of the ISNb pathway).

The ISNb nerve frequently remains attached to the ISN in tokK788/tokD427 larvae, sometimes as a separately identifiable axon bundle, and reaches its target muscles via irregular routes. Defasciculation defects are also seen in the SN pathway, with the SNa nerve often growing more posteriorly than normal as it defasciculates too late.

The branch points of the ISN appear underdeveloped in tokK788/tokD427 embryos, and/or the ISN is stalled at the second branch point and barely reaches the position of the third branch point. 51.2% of hemisegments have SNa defects in these embryos, including two dorsal branches of the SNa. The ISNb fails to defasciculate from the ISN in 96.2% of hemisegments. It is either tightly attached to the ISN or forms a separate parallel nerve bundle. Defasciculation defects are also see in Fas2-expressing nerve tracts in the embryonic central nervous system.

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

tokK788 sideC137/tokD427 sideC137 double mutant larvae show a strong enhancement of each single mutant phenotype; double mutant larvae lack virtually all neuromuscular junctions on all ventral muscles in all abdominal hemisegments. Dorsal and lateral muscles also show an increase in innervation errors compared to single mutants.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer

Selected as: A mutation affecting the structure of the neuromuscular junction.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
tokD427
Name Synonyms
Secondary FlyBase IDs
    References (1)