FlyBase Allele Report: Dmel\conv[R278]

General Information

Symbol

Dmel\conv^R278

Species

D. melanogaster

Name

FlyBase ID

FBal0230219

Feature type

allele

Associated gene

Dmel\conv

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Swanson et al., 2009)

Mutagen

ethyl methanesulfonate

(Swanson et al., 2009)

Progenitor genotype

Cytology

Description

Amino acid replacement: S469L.

(Swanson et al., 2009)

Nucleotide substitution: C?T.

(Swanson et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:14,272,813..14,272,813 [+]

Nucleotide change:

C14272813T

Reported nucleotide change:

C?T

Amino acid change:

S469L | conv-PA; S469L | conv-PB

Reported amino acid change:

S469L

(Swanson et al., 2009)

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

lethal - all die before end of second instar larval stage (with conv^Y58)

(Swanson et al., 2009)

lethal - all die before end of second instar larval stage | recessive

(Swanson et al., 2009)

some die during second instar larval stage (with conv^Y58)

(Swanson et al., 2009)

some die during second instar larval stage | recessive

(Swanson et al., 2009)

Phenotype Manifest In

larval tracheal system (with conv^Y58)

(Swanson et al., 2009)

presumptive embryonic/larval tracheal system

(Swanson et al., 2009)

presumptive embryonic/larval tracheal system (with conv^Y58)

(Swanson et al., 2009)

presumptive embryonic/larval tracheal system (with Df(2R)7131)

(Swanson et al., 2009)

taenidium (with Df(2R)7131)

(Swanson et al., 2009)

tracheal dorsal trunk primordium

(Swanson et al., 2009)

Detailed Description

Statement

Reference

Homozygous larvae hatch and begin crawling, but do not survive past the second larval instar.

100% of trachea in conv^Y58/conv^R278 larvae fail to fill with air.

The trachea in mutant embryos appear normal through stage 15, but by stage 16 they become overly long and "convoluted".

Adherens junctions and septate junctions in the trachea appear ultrastructurally normal in stage 17 conv^R278/Df(2R)7131 embryos. At stage 16, the lumenal matrix of the trachea appears to be less dense and somewhat grainer than normal and some taenidial ridges are abnormal. By stage 17, the mutant lack the normal gap between the matrix and the lumen wall, and the taenidial defects are more pronounced.

Chitin accumulates normally in the tracheal lumen of conv^R278/conv^Y58 stage 17 embryos. The gaps that normally appear between the lumenal walls the matrix are missing in these embryos.

(Swanson et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

conv^R278 has presumptive embryonic/larval tracheal system phenotype, non-enhanceable by dpy^OVLR

(Swanson et al., 2009)