FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\MhcK1728del
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General Information
Symbol
Dmel\MhcK1728del
Species
D. melanogaster
Name
FlyBase ID
FBal0342222
Feature type
allele
Associated gene
Dmel\Mhc
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Dahl-Halvarsson et al., 2018)
Progenitor genotype
Cytology
Description

Deletion of 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)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
2L:16,786,191..16,786,193 [+]
Comment:

Deletion of K1792 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)
      CEA with Mhc10
      (Dahl-Halvarsson et al., 2018)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  distal myopathy
      is ameliorated by tnUAS.cDa
      (Dahl-Halvarsson et al., 2018)
      is NOT exacerbated by tnMJO-348
      (Dahl-Halvarsson et al., 2018)
      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

      MhcK1728del homozygotes take longer to reach pupal stage.

      MhcK1728del homozygous third instar larvae show decreased locomotor ability in crawling and turning assays, show a significant decrease in heart rate and their cardiac and striated muscles, as well as the indirect flight muscles in pupae, show sarcomere organization defects. Heterozygotes show similar but milder defects, except for the heart rate and cardiac muscle defects.

      MhcK1728del heterozygous and (more severely) MhcK1728del/Mhc10 transheterozygous adults show significantly decreased jump and climbing abilities, display wing posture defects and fail to beat their wings, indicating a complete lack of flight ability. In MhcK1728del/Mhc10 transheterozygous adults these are associated with sarcomere organization defects and atrophy of the indirect flight muscles; MhcK1728del heterozygotes show only very mild sarcomere organization defects, occasional mitochondrial aggregation and no signs of atrophy.

      (Dahl-Halvarsson et al., 2018)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      NOT Enhanced by
      Statement
      Reference

      MhcK1728del has abnormal locomotor behavior | adult stage | dominant phenotype, non-enhanceable by tn[+]/tnMJO-348

      (Dahl-Halvarsson et al., 2018)
      Suppressed by
      NOT suppressed by
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      The jump ability defects and flightless phenotype observed in MhcK1728del heterozygotes are suppressed by the expression of tnUAS.cDa under the control of Scer\GAL4Mef2.PR but are not significantly affected by tnMJO-348 heterozygosity.

      The jump ability defects observed in MhcK1728del/Mhc10 transheterozygotes are not suppressed by the expression of tnUAS.cDa under the control of Scer\GAL4Mef2.PR.

      (Dahl-Halvarsson et al., 2018)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      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
      (Dahl-Halvarsson et al., 2018)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)