FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcR672C
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General Information
Symbol
Dmel\MhcR672C
Species
D. melanogaster
Name
FlyBase ID
FBal0345162
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 R672C amino acid replacement. This mutation is equivalent to the R672C 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:

C16777288T

Reported nucleotide change:

CGT>TGT

Amino acid change:

R672C | Mhc-PA; R672C | Mhc-PB; R672C | Mhc-PC; R672C | Mhc-PD; R672C | Mhc-PE; R672C | Mhc-PF; R672C | Mhc-PG; R672C | Mhc-PH; R672C | Mhc-PI; R672C | Mhc-PK; R672C | Mhc-PL; R672C | Mhc-PM; R672C | Mhc-PN; R672C | Mhc-PO; R672C | Mhc-PP; R672C | Mhc-PQ; R672C | Mhc-PR; R672C | Mhc-PS; R672C | Mhc-PT; R672C | Mhc-PU; R672C | Mhc-PV

Reported amino acid change:

R672C

Comment:

Analogous R672C 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.Arg672Cys
Variants Synonym(s)
Associated human disease model(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Both MhcR672C hetero- and homo-zygosity in a Mhc10 background leads to a fully flightless phenotype; the MhcR672C homozygosity condition also typically leads to a wings-up phenotype.

In the MhcR672C, Mhc10 double homozygosity condition, pupal indirect flight muscles display severe assembly defects (abnormally shaped and sized myofibrils, and aberrantly localized Z-band material, with poor myofilament organization); 2h-old adult indirect flight muscles show extreme disruption in morphology (thick filaments dispersed in myofibril remnants and reduction in regular sarcomere patterns); these defects become more severe during adulthood. In the MhcR672C/+, Mhc10/Mhc10 condition, pupal indirect flight muscles show no obvious defects; however, 2h-old adult indirect flight muscles present myofibrils with disrupted myofilament arrays and branching sarcomeres with wavy Z- and M-line material; 2 days-old adult indirect flight muscles show disrupted myofibril morphology with scattered Z-band material, and sarcomeres are further disordered; 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
MhcR672C
Name Synonyms
Secondary FlyBase IDs
    References (2)