FlyBase Allele Report: Dmel\cher[EPSΔ5]

General Information

Symbol

Dmel\cher^EPSΔ5

Species

D. melanogaster

Name

FlyBase ID

FBal0101476

Feature type

allele

Associated gene

Dmel\cher

Associated Insertion(s)

Carried in Construct

Also Known As

cher^Δ5

Key Links

Allele class

hypomorphic allele - molecular evidence

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

hypomorphic allele - molecular evidence

(Bolduc et al., 2010)

Mutagen

Delta2-3 transposase

(Li et al., 1999)

Progenitor genotype

cher^EP3715

(Li et al., 1999)

Cytology

Description

A deletion of 2,459 bp of genomic DNA including the first exon of cher.

(Sokol and Cooley, 2003)

Imprecise excision of the P{EP} element, resulting in a small deletion at the 5' end of the cher transcription unit.

(Li et al., 1999)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 myopathy

CEA

(González-Morales et al., 2017)

CEA with sls^j1D7

(González-Morales et al., 2017)

CEA with Act88F⁶

(González-Morales et al., 2017)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

cher^EPSΔ5/Df(3R)Exel6176 transheterozygotes model myopathy.

(González-Morales et al., 2017)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal flight (with Df(3R)Exel6176)

(González-Morales et al., 2017)

abnormal memory | recessive

(Bolduc et al., 2010)

abnormal neuroanatomy | embryonic stage

(Jeong et al., 2017)

abnormal size | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

female sterile | recessive

(Sokol and Cooley, 2003, Li et al., 1999)

Phenotype Manifest In

axon | embryonic stage

(Jeong et al., 2017)

border follicle cell

(Sokol and Cooley, 2003)

egg chamber

(Sokol and Cooley, 2003, Li et al., 1999)

germarium region 2b & interfollicle cell

(Sokol and Cooley, 2003)

H zone | adult stage

(González-Morales et al., 2017)

H zone | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

indirect flight muscle cell | adult stage

(González-Morales et al., 2017)

indirect flight muscle cell | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

larval intersegmental nerve | embryonic stage

(Jeong et al., 2017)

larval intersegmental nerve branch ISNb of A1-7 | embryonic stage

(Jeong et al., 2017)

larval segmental nerve branch SNa of A1-7 | embryonic stage

(Jeong et al., 2017)

nurse cell ring canal

(Li et al., 1999)

sarcomere | adult stage

(González-Morales et al., 2017)

sarcomere | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

stalk follicle cell

(Sokol and Cooley, 2003)

Z disc | adult stage (with Df(3R)Exel6176)

(González-Morales et al., 2017)

Detailed Description

Statement

Reference

cher^EPSΔ5/Df(3R)Exel6176 transheterozygotes cannot sustain flight, since high frequency wing beat is only sustained for a few seconds, as compared to wild-type and cher^EPSΔ5 heterozygous controls. These mutants exhibit a moderate but significant decrease in the number of recognizable sarcomeres in adult indirect flight muscles, associated with widened or smaller/fractured Z-disc and actin incorporation into the H-zone, as compared to wild-type and cher^EPSΔ5 heterozygous controls.

cher^EPSΔ5 homozygotes exhibit a low frequency of abnormal actin accumulation at the H-zone of adult indirect flight muscle sarcomeres.

(González-Morales et al., 2017)

cher^EPSΔ5 homozygous embryos display increased frequency of defasciculation defects in axons of the intersegmental nerve b (ISNb), segmental nerve as well as intersegmental nerve (no obvious defects in the morphology and development of ventrolateral muscles are observed). cher^EPSΔ5 heterozygotes do not show any ISNb defects.

(Jeong et al., 2017)

cher^EPSΔ5/cher^EPSΔ5 mutants do not display any gross morphological defects of the mushroom body, and neither cher^EPSΔ5/cher^EPSΔ5 nor cher^EPSΔ5/+ mutants display any defects in sensorimotor responses (shock reactivity, octanol avoidance, and methylcyclohexanol avoidance) as compared to wild type.

cher^EPSΔ5/cher^EPSΔ5 mutants display defective memory 1 day and 4 days after spaced training, but not 1-day after massed training in a Pavlovian olfactory learning context, and cher^EPSΔ5/+ mutants do not display memory defects, as compared to wild type.

cher^EPSΔ5/cher^joy mutants do not display defects in memory 1 day after spaced training in a Pavlovian olfactory learning context.

(Bolduc et al., 2010)

cher^EPSΔ5 homozygous females show ovary defects of very variable severity. While some ovaries in these animals look quite normal, others are grossly abnormal. About half the egg chambers in these flies contain 2 oocytes and 30 ring canals, probably as a result of fusion of 2 chambers. This may result from disruption of morphogenesis of the interfollicular stalk: Inwardly migrating follicle cells in germarium region 2b that normally make the stalk often fail to maintain stable apical contacts between each other. Instead of intercalating to form a cohesive stalk, they make a highly disorganized follicular epithelium. However, follicle cell apicobasal polarity is not directly affected. In over 80% of mutant egg chambers that reach stage 10, the border cell migration is delayed compared to wild-type, on average (n = 28) migrating only 57% of the distance to the oocyte by the stage wild-type border cells have reached it. Migration is clearly not stalled, as the border cells do eventually reach the oocyte at later stages.

(Sokol and Cooley, 2003)

cher^sko/cher^EPSΔ5 females show disruption of actin organisation in egg chambers and ring canal growth is reduced. Few intact ring canals are seen in late stage egg chambers.

(Li et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

cher^EPSΔ5/cher[+] is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

cher^EPSΔ5/cher^EPSΔ5 is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

Other

Statement

Reference

cher^EPSΔ5, sls[+]/sls^j1D7 has abnormal flight phenotype

(González-Morales et al., 2017)

Fmr1^B55/Fmr1[+], cher^EPSΔ5 has abnormal memory phenotype

(Bolduc et al., 2010)

Phenotype Manifest In

Enhancer of

Statement

Reference

cher^EPSΔ5/cher[+] is an enhancer of sarcomere | adult stage phenotype of Df(3R)Exel6176/+, sls^ZCL2144

(González-Morales et al., 2017)

cher^EPSΔ5/cher[+] is an enhancer of H zone | adult stage phenotype of Df(3R)Exel6176/+, sls^ZCL2144

(González-Morales et al., 2017)

cher^EPSΔ5/cher[+] is an enhancer of indirect flight muscle cell | adult stage phenotype of Df(3R)Exel6176/+, sls^ZCL2144

(González-Morales et al., 2017)

cher^EPSΔ5/cher[+] is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

cher^EPSΔ5/cher[+] is an enhancer of axon | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

cher^EPSΔ5/cher^EPSΔ5 is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

cher^EPSΔ5/cher^EPSΔ5 is an enhancer of axon | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

Other

Statement

Reference

Act88F⁶, cher^EPSΔ5 has sarcomere | adult stage phenotype

(González-Morales et al., 2017)

Act88F⁶, cher^EPSΔ5 has indirect flight muscle cell | adult stage phenotype

(González-Morales et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

cher^EPSΔ5, sls^j1D7 double heterozygotes exhibit flight defects, since high frequency wing beat is only sustained for a few seconds, but do not exhibit any obvious sarcomere defects, as compared to wild-type and single heterozygous controls. cher^EPSΔ5, Act88F⁶ double heterozygotes frequently present myofibrils that are too frayed to distinguish individual sarcomeres, as compared to the corresponding single heterozygous controls.

Heterozygosity for cher^EPSΔ5 enhances the abnormal accumulation of actin in the H-zone of adult indirect flight muscles observed in sls^ZCL2144, Df(3R)Exel6176 double heterozygotes.

(González-Morales et al., 2017)

The moderate guidance defects observed in intersegmental nerve b motor axons of Sema1a^k13702 heterozygous embryos are exacerbated by combination with a single copy of cher^EPSΔ5 but the very strong defects observed in Sema1a^k13702 homozygotes cannot be worsened further by cher^EPSΔ5 homozygosity.

(Jeong et al., 2017)

cher^EPSΔ5/+; Fmr1^B55/+ double heterozygotes display defective memory 1 day and 4 days after spaced training, but not 1 day after massed training in a Pavlovian olfactory learning context, but do not display any defects in sensorimotor responses (shock reactivity, octanol avoidance, and methylcyclohexanol avoidance) as compared to wild type.

(Bolduc et al., 2010)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

cher^Q1042X

(Sokol and Cooley, 2003)

cher^EP3715

(Sokol and Cooley, 2003)

cher^Q683X

(Sokol and Cooley, 2003)

cher^sko

(Sokol and Cooley, 2003)

cher^sko

(Li et al., 1999)

Partially rescued by

cher^EPSΔ5 is partially rescued by cher^long.UAS/Scer\GAL4^sca-537.4

(Jeong et al., 2017)

cher^EPSΔ5 is partially rescued by cher^long.UAS/Scer\GAL4^VGlut1-OK371

(Jeong et al., 2017)

cher^EPSΔ5 is partially rescued by cher^long.UAS/Scer\GAL4^elav.PLu

(Jeong et al., 2017)

cher^EPSΔ5 is partially rescued by cher^hsp70.PS

(Sokol and Cooley, 2003)

Comments

Expression of cher^{long.Scer\UAS} under the control of any of the following: Scer\GAL4^sca-537.4, Scer\GAL4^VGlut-OK371 and Scer\GAL4^elav.PLu significantly improves the axon guidance defects observed in intersegmental nerve b motor axons of cher^EPSΔ5 mutant embryos.

(Jeong et al., 2017)

Female sterile in combination with cher^sko.

(Li et al., 1999)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

cher^EPSΔ5

(Huelsmann et al., 2016, Bolduc et al., 2010)

cher^Δ5

(González-Morales et al., 2017, Jeong et al., 2017, Bolduc et al., 2010, Sokol and Cooley, 2003)

Name Synonyms

Secondary FlyBase IDs

References (6)

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