FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcL1793P
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General Information
Symbol
Dmel\MhcL1793P
Species
D. melanogaster
Name
FlyBase ID
FBal0337863
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
L1793P
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Carried in construct
Cytology
Description

Genomic fragment containing Mhc. The coding sequence has been mutated to include a mutation analagous to the L1793P mutation in the human MYH7 gene which is associated with myosin storage myopathy.

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:

T16786384C

Reported nucleotide change:

CTG>CCG

Amino acid change:

L1792P | Mhc-PA; L1792P | Mhc-PB; L1792P | Mhc-PC; L1792P | Mhc-PD; L1792P | Mhc-PE; L1792P | Mhc-PF; L1792P | Mhc-PG; L1792P | Mhc-PH; L1792P | Mhc-PI; L1792P | Mhc-PK; L1792P | Mhc-PL; L1792P | Mhc-PM; L1792P | Mhc-PN; L1792P | Mhc-PO; L1792P | Mhc-PP; L1792P | Mhc-PQ; L1792P | Mhc-PR; L1792P | Mhc-PS; L1792P | Mhc-PT; L1792P | Mhc-PU; L1792P | Mhc-PV

Reported amino acid change:

L1791P

Comment:

Analogous L1793P mutation in human MYH7 implicated in myopathy, myosin storage, autosomal dominant; 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 )
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.
MYH7:p.Leu1793Pro
Variants Synonym(s)
External database links
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Adults bearing two copies of MhcL1793P in an Mhc10 homozygous background present a wings-up phenotype, are virtually flightless, jump significantly shorter distances, and the indirect flight muscles exhibit severe disruptions in muscle fibers, including torn fibers that are bunched at the attachment sites, disrupted sarcomere integrity and accumulation of myosin and poly-ubiquitin aggregates, as compared to controls. At the ultrastructural level, the indirect flight muscles of pupae and young adults lack the normal round morphology, lack the regular sarcomeric arrangement and show misaligned subsections of myofibrils, with several areas showing disruption of the hexagonal arrangement of thick and thin filaments, as compared to controls; these defects are more severe in young adults compared to pupae.

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
MhcL1793P
Name Synonyms
Secondary FlyBase IDs
    References (3)