FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcDA2B
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General Information
Symbol
Dmel\MhcDA2B
Species
D. melanogaster
Name
FlyBase ID
FBal0362427
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 A232T amino acid substitution has been introduced into the embryonic isoform. This change is equivalent to an A234T change in the orthologous human MYH3 gene, a variant associated with distal arthrogryposis type 2B.

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:

G16770802A

Amino acid change:

A232T | Mhc-PA; A232T | Mhc-PB; A232T | Mhc-PC; A232T | Mhc-PD; A232T | Mhc-PE; A232T | Mhc-PF; A232T | Mhc-PG; A232T | Mhc-PH; A232T | Mhc-PI; A232T | Mhc-PK; A232T | Mhc-PL; A232T | Mhc-PM; A232T | Mhc-PN; A232T | Mhc-PO; A232T | Mhc-PP; A232T | Mhc-PQ; A232T | Mhc-PR; A232T | Mhc-PS; A232T | Mhc-PT; A232T | Mhc-PU; A232T | Mhc-PV

Comment:

Analogous A234T mutation in human MYH3 implicated in distal arthrogryposis type 2B; 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.Ala234Thr
Variants Synonym(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Indirect flight muscles of MhcDA2B/MhcDA2B, Mhc10/Mhc10 organisms fail to assemble properly and worsen with age: In late-stage pupae, there are poorly formed myofibrils with abnormal filament packing, and M- and Z-lines are extremely distorted. In 2h-old adults, there are severe defects in packing and alignment of filaments, with remnants of M- and Z-lines diffused throughout the sarcomere. In 2-days old adults, thick and thin filaments are dispersed randomly throughout the myofibril.

Indirect flight muscles of MhcDA2B/+, Mhc10/+ organisms show abnormal myofibril morphology: In late-stage pupae there are small myofibrils that show some filament packing disruptions, and poorly-formed M- and Z-lines. In 2h-old adults, myofibrils show further disruption in thick and thin filament packing and M- and Z-lines are aberrant or absent. In 2d-old adults some myofibrils appear fused, with poorly ordered thick and thin filament arrays, and Z-lines are more closely spaced.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
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
MhcDA2B
Name Synonyms
Secondary FlyBase IDs
    References (2)