FB2024_03 , released June 25, 2024
Allele: Dmel\MhcE1570K
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General Information
Symbol
Dmel\MhcE1570K
Species
D. melanogaster
Name
FlyBase ID
FBal0101632
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
Ifm(2)RU1
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

Amino acid replacement: E1570K.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

G16785650A

Amino acid change:

E1570K | Mhc-PA; E1570K | Mhc-PB; E1570K | Mhc-PC; E1570K | Mhc-PD; E1570K | Mhc-PE; E1570K | Mhc-PF; E1570K | Mhc-PG; E1570K | Mhc-PH; E1570K | Mhc-PI; E1570K | Mhc-PK; E1570K | Mhc-PL; E1570K | Mhc-PM; E1570K | Mhc-PN; E1570K | Mhc-PO; E1570K | Mhc-PP; E1570K | Mhc-PQ; E1570K | Mhc-PR; E1570K | Mhc-PS; E1570K | Mhc-PT; E1570K | Mhc-PU; E1570K | Mhc-PV

Reported amino acid change:

E1570K

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

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 ( 0 )
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)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

4-5 day old MhcE1570K mutant homozygotes show severe dorsal longitudinal muscle (DLM) abnormality, with intact fibres attached through thin strands at both ends. Muscle deformity (reduced birefringence) is also present, although the tearing and bundling of fibres associated with a typical hypercontraction phenotype is not observed. Sarcomeres show some of the repetitive structure seen in wild type but there is considerable disarray, with severe disruption of the filament lattice. The lattice is almost totally absent except for small patches where myofilaments are seen, and individual scattered thick and thin filaments are present. In some areas, clumps of Z-disc-like structures are linked by what appear to be thin filaments. These Z-discs are smaller and more variable in shape, with short spacing compared to wild type. DLM defects are also detected during development. Z discs of an irregular shape and size are first detectable at 42-46h after puparium formation and the myofibrils appear wider at this stage.

The dorsal longitudinal muscle (DLM) fibres in newly eclosed MhcE1570K/+ flies appear similar to wild type, with areas of reduced birefringence. However, by two days these heterozygous flies show a more typical complete hypercontraction phenotype; the fibres have detached and bundled to one side as a result of tearing, especially at the anterior muscle attachment site. The thick/thin filament lattice is clearly present, but is irregular and loosely packed. Repeating sarcomeric structures are seen but are short and irregular compared to wild type. M-bands and Z-discs are irregular, and I-bands and H-zones are not seen. No defects are detected in the DLMs of pupal stage MhcE1570K/+ mutants

The dorsal longitudinal muscles of MhcE1570K/MhcL1736P transheterozygotes show fibre thinning at both the anterior and posterior ends. The flies are flightless.

MhcE1570K interacts with Mhc1, Mhc7 or Mhc13 in trans to give muscle phenotypes that are intermediate between the two or show severe indirect flight muscle degeneration.

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
Partially rescued by

MhcE1570K/Ifm(2)RU1[+] is partially rescued by Mhc+t41.9

MhcE1570K is partially rescued by Mhc+t41.9

Comments

Expression of two copies of Mhc+t41.9 rescues the dorsal longitudinal muscle thinning seen in homozygous MhcE1570K mutants, with flies instead showing a similar hypercontraction phenotype to that seen in MhcE1570K heterozygotes. Expression of Mhc+t41.9 partially suppresses the sarcomere disruption seen in MhcE1570K mutants.

Expression of Mhc+t41.9 partially rescues the hypercontraction phenotype seen in MhcE1570K/+ mutants, with flies displaying less fibre tearing.

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Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (3)