FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcK1728del.UAS
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General Information
Symbol
Dmel\MhcK1728del.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0342224
Feature type
allele
Associated gene
Dmel\Mhc
Associated Insertion(s)
Carried in Construct
P{UAS-Mhc.K1728del}
Key Links
Genomic Maps

Transgenic product class
inframe_deletion
(Dahl-Halvarsson et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Dahl-Halvarsson et al., 2018)
Mutagen
in vitro construct
(Dahl-Halvarsson et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-Mhc.K1728del}
Cytology
Description

UASt regulatory sequences drive expression of the embryonic Mhc cDNA, which has been mutated to delete the codon encoding the K1728 amino acid residue (this lesion corresponds to the recurrent K1729del mutation that is seen in Laing distal myopathy patients).

(Dahl-Halvarsson et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Mhc
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
2L:16,786,191..16,786,193 [+]
Comment:

Deletion of K1728 residue is analagous to the deletion of K1729 in human that is associated with Liang distal myopathy. A silent mutation C16786184T was also introduced.

(Dahl-Halvarsson et al., 2018)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      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
      model of  distal myopathy
      CEA
      (Dahl-Halvarsson et al., 2018)
      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.
      (Dahl-Halvarsson et al., 2018)
      MYH7:p.Lys1729del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: MYH7_42096
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Adults expressing MhcK1728del.UAS under the control of Scer\GAL4Mef2.PR show impaired locomotion, as they are flightless and show significantly decreased jump and climbing abilities than controls; these individuals also show severe sarcomere organization defects in the indirect flight muscles.

      (Dahl-Halvarsson et al., 2018)
      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
      MhcK1728del.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)