FlyBase Allele Report: Dmel\cv-c[M62]

General Information

Symbol

Dmel\cv-c^M62

Species

D. melanogaster

Name

FlyBase ID

FBal0190118

Feature type

allele

Associated gene

Dmel\cv-c

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Denholm et al., 2005)

hypomorphic allele - genetic evidence

(Brodu and Casanova, 2006)

Mutagen

ethyl methanesulfonate

(Denholm et al., 2005)

Progenitor genotype

Cytology

Description

Mutation results in a truncation of the protein within the GAP domain.

(Denholm et al., 2005)

Amino acid replacement: Q666term.

(Denholm et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:14,394,114..14,394,114 [-]

Nucleotide change:

C14394114T

Amino acid change:

Q666term | cv-c-PA; Q2000term | cv-c-PC; Q2000term | cv-c-PD

Reported amino acid change:

Q666term

Comment:

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

(Denholm et al., 2005)

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 ( 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

abnormal developmental rate

(Denholm et al., 2005)

abnormal neurophysiology (with cv-c¹)

(Pilgram et al., 2011)

abnormal neurophysiology | dominant

(Pilgram et al., 2011)

abnormal size | late embryonic stage (with cv-c⁷)

(Sotillos et al., 2018)

lethal - all die during embryonic stage

(Denholm et al., 2005)

some die during embryonic stage

(Denholm et al., 2005)

Phenotype Manifest In

Detailed Description

Statement

Reference

In most cv-c⁷/cv-c^M62 embryos Malpighian tubules fail to elongate.

(Sotillos et al., 2018)

The amplitudes of excitatory junction potentials (EJPs) evoked by stimulation at 0.3 Hz and recorded at third instar larval neuromuscular junctions of heterozygous cv-c^M62/+ and cv-c¹/cv-c^M62 mutants are significantly increased above control levels. As a result, quantal content (QC) is about 70% higher than the QC in the wild-type control.

(Pilgram et al., 2011)

The posterior crossvein is completely absent from the wings of cv-c¹/cv-c^M62 flies. In cv-c^M62 mutants, cells that contribute to the larval mouth skeleton fail to move into the embryo so that structures such as the medial tooth, the H piece and dorsal bridge remain on the surface of the embryo. In 28% of cv-c^M62 posterior spiracles analysed , the cells that form the Filzkorper do not invaginate and instead form a lawn on the exterior. In 67% of posterior spiracles analysed, the Filzkorper cells invaginate but do so aberrantly such that the final Filzkorper is branched. In cv-c^M62 embryos, dorsal closure is delayed and puckering of the dorsal cuticle is frequently observed. The anterior (and occasionally also the posterior) midgut constriction fails o develop. The Malpighian tubules form a single large cyst or ball-like structure instead of four elongated tubules. The cyst-like structure in mutants sometimes, but not always, exhibits a central lumen, which is revealed by the accumulation of secreted urates. In a small proportion of embryos, the distal regions of one and, occasionally, two tubules undergo normal convergent extension movements, with the distal tips finding their correct location within the body cavity.

(Denholm et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

cv-c⁷/cv-c^M62 has abnormal size | late embryonic stage phenotype, suppressible | partially by Hsap\DLC1^UAS.Tag:MYC/Scer\GAL4^ct.CtB

(Sotillos et al., 2018)

cv-c⁷/cv-c^M62 has abnormal size | late embryonic stage phenotype, suppressible by Scer\GAL4^ct.CtB/cv-c::Hsap\DLC1^{dNCR.UAS.Tag:MYC}

(Sotillos et al., 2018)

cv-c⁷/cv-c^M62 has abnormal size | late embryonic stage phenotype, suppressible by Hsap\STARD8^{UAS.α.Tag:MYC}/Scer\GAL4^ct.CtB

(Sotillos et al., 2018)

Phenotype Manifest In

Enhanced by

Statement

Reference

cv-c^M62 has posterior spiracle primordium phenotype, enhanceable by Rac1^J11/Rac2^Δ

(Denholm et al., 2005)

Suppressed by

Statement

Reference

cv-c⁷/cv-c^M62 has embryonic Malpighian tubule | late embryonic stage phenotype, suppressible | partially by Hsap\DLC1^UAS.Tag:MYC/Scer\GAL4^ct.CtB

(Sotillos et al., 2018)

cv-c⁷/cv-c^M62 has embryonic Malpighian tubule | late embryonic stage phenotype, suppressible by Scer\GAL4^ct.CtB/cv-c::Hsap\DLC1^{dNCR.UAS.Tag:MYC}

(Sotillos et al., 2018)

cv-c⁷/cv-c^M62 has embryonic Malpighian tubule | late embryonic stage phenotype, suppressible by Hsap\STARD8^{UAS.α.Tag:MYC}/Scer\GAL4^ct.CtB

(Sotillos et al., 2018)

cv-c^M62 has embryonic Malpighian tubule phenotype, suppressible by Rho1^72R/Rho1[+]

(Denholm et al., 2005)

Suppressor of

Statement

Reference

cv-c^M62 is a suppressor of tracheal primordium phenotype of Rho1^72R

(Brodu and Casanova, 2006)

cv-c^M62 is a suppressor of presumptive embryonic/larval tracheal system phenotype of Rho1^72R

(Brodu and Casanova, 2006)

cv-c^M62 is a suppressor of embryo | dorsal closure stage phenotype of Rac1^J11, Rac2^Δ

(Denholm et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

The Rho1^72R abnormal tracheal invagination phenotype is partially suppressed by cv-c^M62.

(Brodu and Casanova, 2006)

The following mutations fail to modify the cv-c^M62 phenotype in the Malpighian tubules: Rac1^J11, Rac2^Δ, Mtl^Δ, Cdc42¹, Cdc42² and Cdc42⁴. 50% of cv-c^M62 mutant embryos additionally homozygous for Rho1^72R and 20% of cv-c^M62 mutant embryos heterozygous for Rho1^72R have a Malpighian tubule phenotype that is significantly less severe than that of the cv-c^M62 homozygote alone. The tubules of double mutant embryos still undergo convergent extension movements to some extent. Dorsal closure defects occur in 82% of Rac1^J11, Rac2^Δ double mutant embryos. If these mutants also carry the cv-c^M62 mutation , 37% of these embryos are rescued. In cv-c^M62, Rac1^J11, Rac2^Δ triple mutants, the posterior spiracle phenotype is enhanced compared to cv-c^M62 mutants.

The following mutations fail to modify the cv-c^M62 phenotype in the Malpighian tubules: Rac1^J11, Rac2^Δ, Mtl^Δ, Cdc42¹, Cdc42² and Cdc42⁴.

50% of cv-c^M62 mutant embryos additionally homozygous for Rho1^72R and 20% of cv-c^M62 mutant embryos heterozygous for Rho1^72R have a Malpighian tubule phenotype that is significantly less severe than that of the cv-c^M62 homozygote alone. The tubules of double mutant embryos still undergo convergent extension movements to some extent.

Dorsal closure defects occur in 82% of Rac1^J11, Rac2^Δ double mutant embryos. If these mutants also carry the cv-c^M62 mutation, 37% of these embryos are rescued.

In cv-c^M62, Rac1^J11, Rac2^Δ triple mutants, the posterior spiracle phenotype is enhanced compared to cv-c^M62 mutants.

(Denholm et al., 2005)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

cv-c⁷/cv-c^M62 is rescued by cv-c^{ΔSAMΔSTART.UAS.Venus}/Scer\GAL4^ct.CtB

(Sotillos et al., 2018)

Partially rescued by

cv-c⁷/cv-c^M62 is partially rescued by Scer\GAL4^ct.CtB/cv-c^UAS.C.Venus

(Sotillos et al., 2018)