FlyBase Allele Report: Dmel\cher[sko]

General Information

Symbol

Dmel\cher^sko

Species

D. melanogaster

Name

FlyBase ID

FBal0101475

Feature type

allele

Associated gene

Dmel\cher

Associated Insertion(s)

Carried in Construct

Also Known As

cher^Q1415sd

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Li et al., 1999)

Progenitor genotype

Cytology

Description

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

(Sokol and Cooley, 2003)

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.

(Sokol and Cooley, 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:17,094,608..17,094,608 [-]

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.

(Sokol and Cooley, 1999)

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 myopathy

CEA

(González-Morales et al., 2017)

CEA with sls^j1D7

(González-Morales et al., 2017)

DOES NOT model myopathy

CEA with Act88F⁶

(González-Morales et al., 2017)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

cher^sko/Df(3R)Exel6176 transheterozygotes model myopathy.

(González-Morales et al., 2017)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal flight (with Df(3R)Exel6176)

(González-Morales et al., 2017)

abnormal size | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

female sterile | recessive

(Li et al., 1999)

viable

(Li et al., 1999)

Phenotype Manifest In

centripetal follicle cell

(Li et al., 1999)

egg chamber

(Li et al., 1999)

follicle cell

(Li et al., 1999)

H zone | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

indirect flight muscle cell | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

nurse cell

(Li et al., 1999)

nurse cell & nucleus

(Li et al., 1999)

nurse cell & plasma membrane

(Li et al., 1999)

nurse cell ring canal

(Wahlstrom et al., 2004, Li et al., 1999)

sarcomere | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

Z disc | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

Detailed Description

Statement

Reference

cher^sko/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 cher^sko 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 cher^sko heterozygous controls.

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

(González-Morales et al., 2017)

Mutant egg chambers contain tiny ring canals.

(Wahlstrom et al., 2004)

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. cher^sko/cher¹ females are sterile and have defects in ring canal assembly and egg chamber morphology.

(Li et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

cher^sko, sls[+]/sls^j1D7 has abnormal flight phenotype

(González-Morales et al., 2017)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

cher^sko has nurse cell ring canal phenotype, non-enhanceable by Actn^Δ233/Actn^Δ208

(Wahlstrom et al., 2004)

NOT suppressed by

Statement

Reference

cher^sko has nurse cell ring canal phenotype, non-suppressible by Actn^Δ233/Actn^Δ208

(Wahlstrom et al., 2004)

Enhancer of

Statement

Reference

cher[+]/cher^sko is an enhancer of sarcomere | adult stage phenotype of Df(3R)Exel6176/+, sls^ZCL2144

(González-Morales et al., 2017)

cher[+]/cher^sko is an enhancer of H zone | adult stage phenotype of Df(3R)Exel6176/+, sls^ZCL2144

(González-Morales et al., 2017)

cher[+]/cher^sko is an enhancer of indirect flight muscle cell | adult stage phenotype of Df(3R)Exel6176/+, sls^ZCL2144

(González-Morales et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

cher^sko, sls^j1D7 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. cher^sko, sls^j1D7 and cher^sko, Act88F⁶ double heterozygotes do not present significant defects in adult indirect flight muscle sarcomeres, as compared to Act88F⁶ single heterozygous controls.

Heterozygosity for cher^sko enhances the abnormal accumulation of actin in the H-zone of adult indirect flight muscles observed in sls^ZCL2144, Df(3R)Exel6176 double heterozygotes.

(González-Morales et al., 2017)

Ring canal morphology in Actn^Δ208/Actn^Δ233 ; cher^sko/cher^sko double mutant females is the same as in cher^sko single mutants.

(Wahlstrom et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Complements

cher^EP3715

(Sokol and Cooley, 2003)

Fails to complement

cher^Q1042X