FB2024_03 , released June 25, 2024
Allele: Dmel\cv-c7
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General Information
Symbol
Dmel\cv-c7
Species
D. melanogaster
Name
FlyBase ID
FBal0189642
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: R601Q. This mutation is located within the active site of the GTPase.

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

G14394308A

Amino acid change:

R601Q | cv-c-PA; R1935Q | cv-c-PC; R1935Q | cv-c-PD

Reported amino acid change:

R601Q

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

In most cv-c7/cv-cM62 (but not cv-c7/+) embryos Malpighian tubules fail to elongate.

cv-c7 mutant embryos exhibit a variably penetrant tracheal phenotype. Approximately 74% of the placodes show an abnormal invagination, without proper apical constriction. In these mutants, dorsal cells do not rotate, but instead the tracheal cells remain in a broad cavity. Myosin distribution is severely disrupted in cv-c7 mutant embryos. Instead of a well-shaped and uniform ring around the edge of the invagination site, there is a patchy distribution with the formation of myosin aggregates. Actin is as detected at the basal membrane in these mutants, as oppose to the apical wild-type situation. Additionally, the remaining apically located actin appears abnormal and seems to form aggregates.

cv-c7 embryos show a mild tracheal branch integrity phenotype that consists of cells that are abnormally separated from one another and are sometimes attached by cytoplasmic bridges. The accumulation of cortical actin is abnormal in the tracheal tubules.

30% of cv-c7 embryos show a spiracle invagination phenotype.

Zygotic cv-c7 mutants show partial or complete invagination defects in their posterior spiracles and the apical actin pattern is strongly disorganised.

cv-c7 mutants display a strong head involution defect, in which the remnants of the whole head skeleton lie on the surface. In cv-c7 embryos, dorsal closure is delayed and puckering of the dorsal cuticle is frequently observed.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

The mild invagination observed in spi2 homozygous embryos is significantly enhanced by the presence of a single copy of cv-c7, with approximately 67% of placodes exhibiting an abnormal invagination, compared to approximately 35% in spi2 mutants.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
References (7)