FlyBase Allele Report: Dmel\klar[Δ1-18]

General Information

Symbol

Dmel\klar^Δ1-18

Species

D. melanogaster

Name

FlyBase ID

FBal0277658

Feature type

allele

Associated gene

Dmel\klar

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

FLPase

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Elhanany-Tamir et al., 2012)

Mutagen

FLPase

(Elhanany-Tamir et al., 2012)

Progenitor genotype

PBac{WH}klar^f06231

(Elhanany-Tamir et al., 2012)

PBac{WH}f06799

(Elhanany-Tamir et al., 2012)

Caused by aberration

Df(3L)Δ1-18

Cytology

Description

FLP-mediated recombination has resulted in an 108kb deletion that removes all coding exons of klar (exons 1-18). The non-coding exon 0 is still present. All coding exons of the downstream gene CG13891 have also been removed.

(Elhanany-Tamir et al., 2012)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:419,859..528,033 [-]

Comment:

FLP-mediated recombination has resulted in an 108kb deletion.

(Elhanany-Tamir 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 ( 1 )

Disease

Evidence

References

model of Emery-Dreifuss muscular dystrophy

CEA

(Wang et al., 2015)

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

(Elhanany-Tamir et al., 2012)

flightless

(Elhanany-Tamir et al., 2012)

Phenotype Manifest In

Detailed Description

Statement

Reference

klar^Δ1-18 homozygotes exhibit severe nuclear spacing defects (i.e. nuclear clustering) in third instar larval muscle fibers, as compared to heterozygous and wild-type controls. Homozygous clones in the follicular epithelium do not display significant changes in average transverse cell area, as compared to controls.

(Ding et al., 2017)

Striated muscle in klar^Δ1-18 mutant third instar larvae exhibits aggregation of the myonuclei and aberrant nuclear shape, as well as variable nuclear size. The network of astral microtubules becomes dissociated from the nucleus. No defects in either mitochondrial or ER positioning are seen.

Homozygous klar^Δ1-18 mutant larvae exhibit a 50% reduction in their motility compared to wild type.

Adult flies homozygous mutant for klar^Δ1-18 are unable to fly.

Myonucleus positioning is aberrant in the DA1, DO1, DA2 and DO2 dorsal muscles of klar^Δ1-18 stage 16 mutant embryos.

(Elhanany-Tamir et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

klar^Δ1-18/klar^Δ1-18 is a suppressor | partially of increased cell death | somatic clone | oogenesis phenotype of kud^KO

(Ding et al., 2017)

klar^Δ1-18/klar^Δ1-18 is a suppressor | partially of decreased cell size | somatic clone | oogenesis phenotype of kud^KO

(Ding et al., 2017)

Phenotype Manifest In

Enhancer of

Statement

Reference

klar^Δ1-18/klar[+] is an enhancer of nucleus | third instar larval stage phenotype of Scer\GAL4^Mef2.247, kud^UAS.CFP

(Ding et al., 2017)

klar^Δ1-18/klar[+] is an enhancer of myotube | third instar larval stage phenotype of Scer\GAL4^Mef2.247, kud^UAS.CFP

(Ding et al., 2017)

klar^Δ1-18/klar[+] is an enhancer of nucleus | third instar larval stage phenotype of Hsap\TMEM258^UAS.CFP, Scer\GAL4^Mef2.247

(Ding et al., 2017)

klar^Δ1-18/klar[+] is an enhancer of myotube | third instar larval stage phenotype of Hsap\TMEM258^UAS.CFP, Scer\GAL4^Mef2.247

(Ding et al., 2017)

Suppressor of

Statement

Reference

klar^Δ1-18/klar^Δ1-18 is a suppressor | partially of follicle cell | somatic clone | oogenesis phenotype of kud^KO

(Ding et al., 2017)

Other

Statement

Reference

Msp300^compl, klar^Δ1-18 has larval muscle system | third instar larval stage phenotype

(Elhanany-Tamir et al., 2012)

Additional Comments

Genetic Interactions

Statement

Reference

klar^Δ1-18 homozygosity partially suppresses both the increased apoptosis and the decreased transverse cell areas observed in kud^KO homozygous follicular epithelium clones. klar^Δ1-18 heterozygosity, however, enhances the minor/insignificant myonuclear spacing defects in third instar larval muscle fibers induced by the expression of kud^{Scer\UAS.T:Avic\GFP-CFP} under the control of Scer\GAL4^Mef2.247 are enhanced by heterozygosity for klar^Δ1-18, leading to moderate nuclear clustering, as compared to controls.

(Ding et al., 2017)

In Msp-300^compl klar^Δ1-18 double heterozygous third instar larvae the myonuclei are aberrantly positioned but, as in wild type, they are still associated with the acto-myosin network.

(Elhanany-Tamir et al., 2012)

Xenogenetic Interactions

Statement

Reference

klar^Δ1-18 heterozygosity enhances the significant myonuclear spacing defects in third instar larval muscle fibers expressing Hsap\TMEM258^{Scer\UAS.T:Avic\GFP-CFP} under the control of Scer\GAL4^Mef2.247.

(Ding et al., 2017)

Complementation and Rescue Data

Rescued by

klar^Δ1-18 is rescued by klar^{UASp.Tag:CS(TEVp).GFP}/Scer\GAL4^Mef2.PR

(Elhanany-Tamir et al., 2012)

Comments

Expression of klar^{Scer\UAS.P\T.T:Zzzz\TEV.CS.T:Avic\GFP} under the control of Scer\GAL4^Mef2.PR rescues the mis-positioning of the nuclei seen in klar^Δ1-18 mutant third instar larvae. The locomotor defects are also fully rescued.

(Elhanany-Tamir 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

klar^D1-18

(Elhanany-Tamir et al., 2012)

klar^Δ1-18

(Zheng et al., 2020, Ding et al., 2017, Wang et al., 2015, Elhanany-Tamir et al., 2012)

klar^Δ118

(Elhanany-Tamir et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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