FlyBase Allele Report: Dmel\ens[swo]

General Information

Symbol

Dmel\ens^swo

Species

D. melanogaster

Name

FlyBase ID

FBal0268987

Feature type

allele

Associated gene

Dmel\ens

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Metzger et al., 2012)

Progenitor genotype

Cytology

Description

Nucleotide substitution: C?T.

(Metzger et al., 2012)

Amino acid replacement: Q?term.

(Metzger et al., 2012)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:4,126,327..4,126,327 [-]

Nucleotide change:

C4126327T

Reported nucleotide change:

C?T

Amino acid change:

Reported amino acid change:

Q477term

Comment:

Inferred location of nonsense mutation, which was reported as a CAA to TAA nonsense mutation at residue Q477 of ens-PA (887 aa isoform). The nearest Q (CAA) codon in ens-PA is at 482. The nearest Q (CAG) codon is at 478.

(Metzger et al., 2012)

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 locomotor behavior | larval stage

(Morel et al., 2014)

abnormal locomotor behavior | third instar larval stage

(Metzger et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

ens^swo homozygous stage 16 embryo myotubes present abnormal nuclear positioning, with severe nuclear clustering.

(Rosen et al., 2019)

ens^swo mutant larvae display locomotion deficit measured as distance crawled per unit of time) and although the nuclei in their abdominal muscles are irregularly spaced, they do not form clusters.

(Morel et al., 2014)

Mutant embryos have clustered nuclei near the vental end of each lateral transverse muscle. Myoblast specification, fusion, muscle elongation and attachment occur normally - the only notable phenotype in ens^swo muscles is a ventral bulge in the cell body that correlates with the cluster of nuclei. This suggests the clustering of nuclei is a nuclear positioning defect.

ens^swo nuclei fail to undergo the initial separation into dorsal and ventral clusters during stage 15 and remain clustered at stage 17.

ens^HP36480, ens^f07121, ens^ΔN, ens^ΔC and ens^Δ3277 fail to complement the myonuclear positioning defect of ens^swo.

Nuclear positioning is disrupted in ens^swo oocytes but not in ens^swo photoreceptors.

No major defects in the microtubule network are observed in ens^swo mutant embryos.

ens^swo L3 larvae move significantly more slowly than controls. The myonuclei in these mutants are 33% closer together than in controls, though sarcomere structure, t-tubules, neuromuscular junctions, nuclei number and mitochondrial localization are all normal.

(Metzger et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Nin^null.R, ens[+]/ens^swo has some die during embryonic stage | maternal effect phenotype

(Rosen et al., 2019)

Nin^null.R, ens[+]/ens^swo has majority die during embryonic stage | maternal effect phenotype

(Rosen et al., 2019)

Nin^null.R, ens[+]/ens^swo has lethal - all die before end of larval stage | maternal effect phenotype

(Rosen et al., 2019)

Nin^null.R/Df(2L)BSC693, ens[+]/ens^swo has some die during embryonic stage | maternal effect phenotype

(Rosen et al., 2019)

Nin^null.R/Df(2L)BSC693, ens[+]/ens^swo has majority die during embryonic stage | maternal effect phenotype

(Rosen et al., 2019)

Nin^null.R/Df(2L)BSC693, ens[+]/ens^swo has lethal - all die before end of larval stage | maternal effect phenotype

(Rosen et al., 2019)

Nin^null.R/Dp(2;3)GV-CH321-49G22, ens[+]/ens^swo has viable phenotype

(Rosen et al., 2019)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

ens^swo has nucleus | embryonic stage 16 phenotype, non-enhanceable by Nin^null.R/Df(2L)BSC693

(Rosen et al., 2019)

ens^swo has embryonic somatic muscle cell | embryonic stage 16 phenotype, non-enhanceable by Nin^null.R/Df(2L)BSC693

(Rosen et al., 2019)

Suppressed by

Statement

Reference

Nin^null.R, ens^swo has nucleus | embryonic stage 16 phenotype, suppressible by Dp(2;3)GV-CH321-49G22/+

(Rosen et al., 2019)

ens^swo has embryonic somatic muscle cell | embryonic stage 16 phenotype, suppressible by Dp(2;3)GV-CH321-49G22/+

(Rosen et al., 2019)

Enhancer of

Statement

Reference

ens[+]/ens^swo is an enhancer of nucleus | embryonic stage 16 phenotype of Nin^UAS.mEosFP, Scer\GAL4^{kirre-rP298-G4}

(Rosen et al., 2019)

ens[+]/ens^swo is an enhancer of embryonic somatic muscle cell | embryonic stage 16 phenotype of Nin^UAS.mEosFP, Scer\GAL4^{kirre-rP298-G4}

(Rosen et al., 2019)

Other

Statement

Reference

Khc[+]/Khc⁸, ens^swo has lateral transverse muscle cell phenotype

(Metzger et al., 2012)

Khc[+]/Khc⁴, ens^swo has lateral transverse muscle cell phenotype

(Metzger et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

The progeny from the cross between Bsg25D^null.R/Bsg25D^null.R fathers and either Bsg25D^null.R/Bsg25D^null.R, ens^swo/+ or Bsg25D^null.R/Df(2L)BSC693, ens^swo/+ mothers is embryonic or larval lethal; progeny from the reciprocal cross does not show any major viability defects, as compared to controls. The lethality of the former is rescued by one copy of Dp(2;3)GV-CH321-49G22.

Bsg25D^null.R/Bsg25D^null.R, ens^swo/+ and Bsg25D^null.R/Df(2L)BSC693, ens^swo/+ stage 16 embryos exhibit a small but significantly higher frequency of nucleus positioning defects in myotubes as compared to ens^swo/+ individuals: nuclei traverse less of the distance toward the muscle poles; in some myotubes, myonuclei are present as one cluster. The nucleus positioning defects of the former individuals are partially rescued by one copy of Dp(2;3)GV-CH321-49G22.

Bsg25D^null.R, ens^swo double homozygous stage 16 embryos exhibit the same severe myotube nucleus clustering as observed in ens^swo single homozygotes.

(Rosen et al., 2019)

Unlike any single heterozygote, embryos doubly heterozygous for ens^swo and Khc⁸ or Khc⁴ show defective myonuclear positioning.

(Metzger et al., 2012)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

ens^swo is rescued by Scer\GAL4^twi.PB/ens^UAS.Tag:HA

(Metzger et al., 2012)

ens^swo is rescued by ens^UAS.Tag:HA/Scer\GAL4^G7

(Metzger et al., 2012)

ens^swo is rescued by Scer\GAL4^α/ens^UAS.Tag:HA

(Metzger et al., 2012)

Comments

Scer\GAL4^twi.PB-mediated expression of ens^{Scer\UAS.T:Ivir\HA1} rescues the myonuclear positioning phenotype of ens^swo embryos.

Scer\GAL4^twi.PB-, Scer\GAL4^G7- or Scer\GAL4^α-mediated expression of ens^{Scer\UAS.T:Ivir\HA1} rescues the myonuclear positioning and motility defects of ens^swo L3 larvae.

(Metzger et al., 2012)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

ens^swo

(Rosen et al., 2019, Winkler et al., 2015, Morel et al., 2014, Metzger et al., 2012, Metzger et al., 2012)

swo

(Metzger et al., 2012)

Name Synonyms

swoosh

(Metzger et al., 2012)

Secondary FlyBase IDs

References (5)

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