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General Information
Symbol
Dmel\chersko
Species
D. melanogaster
Name
FlyBase ID
FBal0101475
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
cherQ1415sd
Key Links
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

G17094608A

Comment:

Nucleotide substitution: A mutation in the splice donor site (AG/GT to AG/AT). A stop codon is present in the intron 6bp from the splice site and translation of the mutant mRNA results in a truncated protein containing 2 amino acids encoded by the intron.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

A point mutation in the conserved splice donor site of exon 14 of cher.

Nucleotide substitution: Contains a mutation in the splice donor site of exon 14 (AG/GT to AG/AT). A stop codon is present in the intron 6bp from the splice site and translation of the mutant mRNA results in a truncated protein containing 2 amino acids encoded by the intron. The mutation is after residue 1415 of the isoform Filamin 240, and residue 43 of Filamin 90.

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 ( 1 )
 

chersko/Df(3R)Exel6176 transheterozygotes model myopathy.

Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

chersko/Df(3R)Exel6176 transheterozygotes cannot sustain flight, since high frequency wing beat is only sustained for a few seconds, as compared to wild-type and chersko heterozygous controls. These mutants exhibit a moderate but significant decrease in the number of recognizable sarcomeres in adult indirect flight muscles, associated with smaller or fractured Z-discs and actin incorporation into the H-zone, as compared to wild-type and chersko heterozygous controls.

chersko homozygotes do not exhibit abnormal actin accumulation at the H-zone of adult indirect flight muscle sarcomeres.

Mutant egg chambers contain tiny ring canals.

Homozygous females do not lay eggs. Their ovaries show an apparent arrest in oocyte growth at stage 10b and no mature egg chambers are seen. Egg chambers show several defects in cellular morphology and membrane integrity, although they contain the wild-type number of 16 germline cells (15 nurse cells and 1 oocyte). There is a disruption in the normal spatial organisation of germline nuclei in homozygous egg chambers, and in late stages, entire nurse cells and/or nurse cell nuclei are sometimes seen to protrude into the posterior compartment which is normally occupied only by the growing oocyte. Follicle cells do migrate to form a columnar epithelium surrounding the oocyte, but they are frequently more elongated than in wild-type egg chambers. The subsequent centripetal movement of follicle cells along the anterior margin of the oocyte is also abnormal in many egg chambers. Early stage egg chambers have an abnormal organisation of actin filaments in both the ring canals and the subcortical network. The ring canals are absent in stage 10 egg chambers and the radial arrays of actin filaments that extend between the nurse cell membranes and nuclei are disrupted. The nurse cells have abnormal morphology. Breaks or disruptions in the plasma membranes that separate adjacent nurse cell cytoplasms are seen in stage 5 or 6 egg chambers. This allows the cytoplasm of adjacent cells to merge in these regions. The plasma membrane is vesiculated at the break points. The ring canal is frequently incomplete and is morphologically abnormal. chersko/cher1 females are sterile and have defects in ring canal assembly and egg chamber morphology.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Other
Statement
Reference
Phenotype Manifest In
NOT Enhanced by
Statement
Reference
NOT suppressed by
Statement
Reference
Enhancer of
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

chersko, slsj1D7 double heterozygotes exhibit flight defects, since high frequency wing beat is only sustained for a few seconds, as compared to wild-type and single heterozygous controls. chersko, slsj1D7 and chersko, Act88F6 double heterozygotes do not present significant defects in adult indirect flight muscle sarcomeres, as compared to Act88F6 single heterozygous controls.

Heterozygosity for chersko enhances the abnormal accumulation of actin in the H-zone of adult indirect flight muscles observed in slsZCL2144, Df(3R)Exel6176 double heterozygotes.

Ring canal morphology in ActnΔ208/ActnΔ233 ; chersko/chersko double mutant females is the same as in chersko single mutants.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer

Induced with: a second mutation on the third chromosome that is a suppressor of the Gl1 rough eye phenotype.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
Reported As
Name Synonyms
shi kong
Secondary FlyBase IDs
  • FBal0121830
References (7)