FB2026_02 , released June 18, 2026
Allele: Dmel\MhcT178I
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General Information
Symbol
Dmel\MhcT178I
Species
D. melanogaster
Name
FlyBase ID
FBal0345163
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Transgenic product class
Nature of the Allele
Transgenic product class
Progenitor genotype
Carried in construct
Cytology
Description

Genomic sequence encompassing the Mhc transcription unit (including its own promoter). The coding sequence has been mutated to carry the T178I amino acid replacement. This mutation is equivalent to the T178I mutation in Hsap\MYH3 that is implicated in Freeman-Sheldon syndrome.

Allele components
Component
Use(s)
Regulatory region(s)
Encoded product / tool
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

C16770641T

Reported nucleotide change:

ACC>ATC

Amino acid change:

T178I | Mhc-PA; T178I | Mhc-PB; T178I | Mhc-PC; T178I | Mhc-PD; T178I | Mhc-PE; T178I | Mhc-PF; T178I | Mhc-PG; T178I | Mhc-PH; T178I | Mhc-PI; T178I | Mhc-PK; T178I | Mhc-PL; T178I | Mhc-PM; T178I | Mhc-PN; T178I | Mhc-PO; T178I | Mhc-PP; T178I | Mhc-PQ; T178I | Mhc-PR; T178I | Mhc-PS; T178I | Mhc-PT; T178I | Mhc-PU; T178I | Mhc-PV

Reported amino acid change:

T178I

Comment:

Analogous T178I mutation in human MYH3 implicated in arthrogryposis, distal, type 2A; mutation carried on in vitro construct.

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 )
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)
 
This allele represents a human variant implicated in disease.
MYH3:p.Thr178Ile
Variants Synonym(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

MhcT178I homozygosity in a Mhc10 background induces a flightless phenotype and adults typically display a wings-up phenotype; the heterozygosity condition also leads to a significant and progressive decrease in flight ability.

In the MhcT178I, Mhc10 double homozygosity condition, pupal indirect flight muscles show assembly defects with disrupted myofibril morphology (myofilament subdomains with myofibrils that are poorly aligned with each other and fraying of filaments); 2h-old adult indirect flight muscles show extreme disruption in morphology (thick filaments dispersed in myofibril remnants and reduction in regular sarcomere patterns); 2 days-old adult indirect flight muscles show continued disruption in myofibril morphology (no regular sarcomeric structures and Z-band material scattered throughout the myofibril remnants). In the MhcT178I/+, Mhc10/Mhc10 condition, the pupal and 2h-old adult indirect flight muscles show no obvious defects; however, 2 days-old adult indirect flight muscles show some disruption in myofibril morphology (myofilaments are missing from the lattice and the sarcomere structural elements are disrupted); in 7 days-old adults there is a severe muscle degeneration.

External Data
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
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
MhcT178I
Name Synonyms
Secondary FlyBase IDs
    References (3)