FlyBase Allele Report: Dmel\egh[62d18]

General Information

Symbol

Dmel\egh^62d18

Species

D. melanogaster

Name

FlyBase ID

FBal0057544

Feature type

allele

Associated gene

Dmel\egh

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Goode et al., 1996)

Progenitor genotype

Cytology

Description

11bp deletion which results in a frameshift at amino acid 97.

(Wandall et al., 2005)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates non-syndromic X-linked intellectual disability 63

modeled by Acsl⁰⁵⁸⁴⁷, Acsl^KO

(Huang et al., 2016)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

dorsal appendage | germline clone

(Goode et al., 1996)

embryonic/larval neuromuscular junction

(Huang et al., 2018)

embryonic/larval neuromuscular junction (with egh⁷)

(Huang et al., 2018)

embryonic/larval peripheral nervous system | third instar larval stage

(Dahlgaard et al., 2012)

embryonic/larval plasmatocyte | ectopic

(Dahlgaard et al., 2012)

larval abdominal segment 9 | third instar larval stage

(Dahlgaard et al., 2012)

larval ventral nerve cord | third instar larval stage

(Dahlgaard et al., 2012)

nurse cell | germline clone

(Goode et al., 1996)

oocyte | germline clone

(Goode et al., 1996)

presumptive embryonic/larval nervous system | germline clone

(Goode et al., 1996)

stalk follicle cell | germline clone

(Goode et al., 1996)

subperineurial glial cell | increased number | third instar larval stage

(Dahlgaard et al., 2012)

terminal bouton | larval stage

(Huang et al., 2018)

terminal bouton | larval stage (with egh⁷)

(Huang et al., 2018)

Detailed Description

Statement

Reference

egh^62d18 hemizygous and egh^62d18/egh⁷, but not egh^62d18/+, larvae have significantly reduced bouton number and significantly increased bouton size at the neuromuscular junction of muscle 4, compared to controls, with no effect on the number of satellite boutons; egh^62d18 mutants do not have any differences in sub-synaptic reticulum, active zone morphology, numbers of ghost boutons or mitochondrial area at neuromuscular junctions, compared to controls.

(Huang et al., 2018)

egh^62d18 mutant third instar larvae exhibit enlargement of peripheral nerves attached immune cells. This is most pronounced in the peripheral nerves that project from the most caudal segment (A9) of the ventral nerve cord. The immune cells are identified as plasmatocytes, that are normally circulating in the hemolymph. In severe cases, large plasmatocyte aggregates completely enfold the nerves in the mutants. There is no obvious correlation between nerve diameter and the degree of plasmatocyte accumulation in the mutants. Neither nerve growth nor plasmatocyte accumulation is observed in wild-type larvae. The monolayer of subperineurial glia appears severely disrupted at the ultrastructural level.

There is an approximately ten fold increase i the number of subperineurial glial cell in egh^62d18 mutant larvae relative to wild-type.

(Dahlgaard et al., 2012)

Females with germline clones lay eggs with fused dorsal appendages and the embryos have an expanded nervous system. Only a few eggs are laid because early oogenesis is blocked due to the development of egg chambers containing multiple oocyte-nurse cell complexes. Germ cell divisions in the egg chambers are not regulated. Follicle cells at the posterior of egg chamber become mesenchymal-like indicating they have not adopted a border cell fate. Stalk cells are determined correctly but are usually disorganised compared to wild type.

(Goode et al., 1996)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

egh^62d18 has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by Ras85D^V12.UAS/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

NOT Enhanced by

Statement

Reference

egh^62d18 has abnormal neuroanatomy | larval stage | recessive phenotype, non-enhanceable by wg^{UAS.cHa.Tag:HA}/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

Suppressed by

Statement

Reference

egh^62d18 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Pi3K92E^{D954A.UAS.Tag:MYC}/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Pten^UAS.cHa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Akt1[+]/Akt⁰⁴²²⁶

(Dahlgaard et al., 2012)

egh^62d18 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by foxo^UAS.cPa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by Hsap\B4GALT6^UAS.cWa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

NOT suppressed by

Statement

Reference

egh^62d18 has abnormal neuroanatomy | recessive | larval stage phenotype, non-suppressible by wg^{UAS.cHa.Tag:HA}/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

Suppressor of

Statement

Reference

egh[+]/egh^62d18 is a suppressor of abnormal neuroanatomy | larval stage phenotype of Scer\GAL4^nSyb.PS, wg^{UAS.cHa.Tag:HA}

(Huang et al., 2018)

Other

Statement

Reference

arr², egh[+]/egh^62d18 has abnormal neuroanatomy | larval stage phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wg¹ has abnormal neuroanatomy | larval stage phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wls^evi-2 has abnormal neuroanatomy | larval stage phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wg^GBM has abnormal neuroanatomy | larval stage phenotype

(Huang et al., 2018)

Phenotype Manifest In

Enhanced by

Statement

Reference

egh^62d18 has embryonic/larval peripheral nervous system | third instar larval stage phenotype, enhanceable by Ras85D^V12.UAS/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

NOT Enhanced by

Statement

Reference

egh^62d18 has embryonic/larval neuromuscular junction phenotype, non-enhanceable by wg^{UAS.cHa.Tag:HA}/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

egh^62d18 has terminal bouton | larval stage phenotype, non-enhanceable by wg^{UAS.cHa.Tag:HA}/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

Suppressed by

Statement

Reference

egh^62d18 has embryonic/larval peripheral nervous system | third instar larval stage phenotype, suppressible by Akt1[+]/Akt⁰⁴²²⁶

(Dahlgaard et al., 2012)

egh^62d18 has embryonic/larval peripheral nervous system | third instar larval stage phenotype, suppressible by foxo^UAS.cPa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has embryonic/larval peripheral nervous system | third instar larval stage phenotype, suppressible by Hsap\B4GALT6^UAS.cWa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has embryonic/larval peripheral nervous system | third instar larval stage phenotype, suppressible by Pi3K92E^{D954A.UAS.Tag:MYC}/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has embryonic/larval plasmatocyte | ectopic phenotype, suppressible by Pten^UAS.cHa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 has embryonic/larval peripheral nervous system | third instar larval stage phenotype, suppressible by Pten^UAS.cHa/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

NOT suppressed by

Statement

Reference

egh^62d18 has embryonic/larval neuromuscular junction phenotype, non-suppressible by wg^{UAS.cHa.Tag:HA}/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

egh^62d18 has terminal bouton | larval stage phenotype, non-suppressible by wg^{UAS.cHa.Tag:HA}/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

egh^62d18 has embryonic/larval plasmatocyte | ectopic phenotype, non-suppressible by Akt1[+]/Akt⁰⁴²²⁶

(Dahlgaard et al., 2012)

Suppressor of

Statement

Reference

egh[+]/egh^62d18 is a suppressor of embryonic/larval neuromuscular junction phenotype of Scer\GAL4^nSyb.PS, wg^{UAS.cHa.Tag:HA}

(Huang et al., 2018)

egh[+]/egh^62d18 is a suppressor of terminal bouton | larval stage phenotype of Scer\GAL4^nSyb.PS, wg^{UAS.cHa.Tag:HA}

(Huang et al., 2018)

Other

Statement

Reference

arr², egh[+]/egh^62d18 has embryonic/larval neuromuscular junction phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wg^GBM has embryonic/larval neuromuscular junction phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wg^GBM has terminal bouton | larval stage phenotype

(Huang et al., 2018)

arr², egh[+]/egh^62d18 has terminal bouton | larval stage phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wg¹ has embryonic/larval neuromuscular junction phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wg¹ has terminal bouton | larval stage phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wls^evi-2 has embryonic/larval neuromuscular junction phenotype

(Huang et al., 2018)

egh[+]/egh^62d18, wls^evi-2 has terminal bouton | larval stage phenotype

(Huang et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

wg¹/+; egh^62d18/+ double heterozygotes, arr²/+; egh^62d18/+ double heterozygotes, wls^evi-2/+; egh^62d18/+ double heterozygotes and wg^GBM/+; egh^62d18/+ double heterozygotes have significantly reduced bouton number and significantly increased bouton size at the neuromuscular junction of muscle 4, compared to controls, unlike either heterozygote alone.

(Huang et al., 2018)

Overexpression of Pten^Scer\UAS.cHa in subperineurial glia under the control of Scer\GAL4^Gli-rL82 effectively normalizes the nerve phenotype in egh^62d18, whereas the recruitment of plasmatocytes is suppressed.

Subperineurial expression of Pi3K92E^{D954A.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^Gli-rL82 strongly suppresses the egh^62d18 nerve phenotype.

Larvae expressing Scer\GAL4^Gli-rL82>Ras85D^V12.Scer\UAS display nerves that are significantly wider than either Scer\GAL4^Gli-rL82>Ras85D^V12.Scer\UAS or egh^62d18 single mutants.

Heterozygous Akt1⁰⁴²²⁶ strongly suppresses the egh^62d18 larval nerve phenotype regarding nerve diameter, but not the nerve-attached plasmatocyte-phenotype.

Overexpression of foxo^Scer\UAS.cPa in subperineurial glia under the control of Scer\GAL4^Gli-rL82 suppresses the egh^62d18 larval nerve phenotype.

(Dahlgaard et al., 2012)

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\B4GALT6^Scer\UAS.cWa driven by Scer\GAL4^Gli-rL82 rescues both egh^62d18 nerve-overgrowth and plasmatocyte accumulation.

(Dahlgaard et al., 2012)

Complementation and Rescue Data

Rescued by

egh^62d18 is rescued by egh^UAS.Tag:MYC/Scer\GAL4^Act5C.PI

(Dahlgaard et al., 2012)

egh^62d18 is rescued by egh^UAS.Tag:MYC/Scer\GAL4^Gli-rL82

(Dahlgaard et al., 2012)

egh^62d18 is rescued by egh^UAS.Tag:MYC/Scer\GAL4^repo

(Dahlgaard et al., 2012)

egh^62d18 is rescued by egh^hs.PG

(Goode et al., 1996)

egh^62d18 is rescued by egh^+t7

(Goode et al., 1996)

egh^62d18 is rescued by egh^+t7

(Williams et al., 1995)

Partially rescued by

egh^62d18 is partially rescued by egh^UAS.Tag:MYC/Scer\GAL4^nSyb.PS

(Huang et al., 2018)

egh^62d18 is partially rescued by egh^UAS.Tag:MYC/Scer\GAL4^elav.PLu

(Dahlgaard et al., 2012)

Not rescued by

egh^62d18 is not rescued by egh^UAS.Tag:MYC/Scer\GAL4^eater.PT

(Dahlgaard et al., 2012)

Partially rescues

egh^62d18/Scer\GAL4^nSyb.PS partially rescues egh^UAS.Tag:MYC

(Huang et al., 2018)

Comments

Ubiquitous expression of egh^{Scer\UAS.T:Hsap\MYC} under the control of any one of Scer\GAL4^Gli-rL82, Scer\GAL4^repo or Scer\GAL4^Act5C.PI efficiently rescues the phenotype of enlargement of peripheral nerves with attached immune cells in egh^62d18 mutants.

(Dahlgaard et al., 2012)

Lethality and fertility phenotypes are rescued by egh^+t7 and egh^hs.PG.

(Goode et al., 1996)

Lethality is rescued by egh^+t7, rescued adults are fertile.

(Williams et al., 1995)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

600466

egh^62d18 f^36a P{neoFRT}18A/FM6, w¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

egh^62D18

(Hamel et al., 2010)

egh^62d18

(Huang et al., 2018, Huang et al., 2016, Dahlgaard et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (7)

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