FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcDA1
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General Information
Symbol
Dmel\MhcDA1
Species
D. melanogaster
Name
FlyBase ID
FBal0362426
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

Encodes the entire 23.8kb Mhc gene, including approximately 450bp of upstream regulatory sequence. A F435I amino acid substitution has been introduced into the embryonic isoform. This change is equivalent to a F437I change in the orthologous human MYH3 gene, a variant associated with distal arthrogryposis type 1.

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:

T16774756A

Amino acid change:

F435I | Mhc-PA; F435I | Mhc-PB; F435I | Mhc-PC; F435I | Mhc-PD; F435I | Mhc-PE; F435I | Mhc-PF; F435I | Mhc-PG; F435I | Mhc-PH; F435I | Mhc-PI; F435I | Mhc-PK; F435I | Mhc-PL; F435I | Mhc-PM; F435I | Mhc-PN; F435I | Mhc-PO; F435I | Mhc-PP; F435I | Mhc-PQ; F435I | Mhc-PR; F435I | Mhc-PS; F435I | Mhc-PT; F435I | Mhc-PU; F435I | Mhc-PV

Comment:

Analogous F437I mutation in human MYH3 implicated in distal arthrogryposis type 1; 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.Phe437Ile
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

Indirect flight muscles of MhcDA1/MhcDA1, Mhc10/Mhc10 organisms fail to assemble properly and worsen with age: In late-stage pupae, myofibrils are distorted with some disruptions of thick and thin filament packing, M- lines are poorly formed and Z-lines are diffuse. In 2h-old adults, more severe filament irregularities are present, with gaps between thick and thin filaments, aberrant filament alignment. In 2d old adults, adjacent myofibrils tend to merge.

Indirect flight muscles of 2h and 2d old MhcDA1/+, Mhc10/+ show essentially normal myofibrils with occasional filaments missing from myofibrils that display similar to control M- and Z-lines. These muscles show decreased power output, slower kinetics and enhanced stiffness compared to controls.

External Data
Interactions
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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
MhcDA1
Name Synonyms
Secondary FlyBase IDs
    References (2)