FlyBase Allele Report: Dmel\Eps-15[e75]

General Information

Symbol

Dmel\Eps-15^e75

Species

D. melanogaster

Name

FlyBase ID

FBal0219694

Feature type

allele

Associated gene

Dmel\Eps-15

Associated Insertion(s)

P{?EP}Eps-15^e75

Carried in Construct

Also Known As

eps15^e75

Key Links

Allele class

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Koh et al., 2007)

Progenitor genotype

Eps-15^EP2513

(Koh et al., 2007)

Associated Insertion(s)

P{?EP}Eps-15^e75

Cytology

Description

Imprecise excision of the insertion in Eps-15^EP2513. Remnants of the inserted element are still present at the original insertion site.

(Koh et al., 2007)

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

exacerbates Troyer syndrome

modeled by spartin¹

(Nahm et al., 2013)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | larval stage (with Eps-15^Δ29)

(Koh et al., 2007)

abnormal neurophysiology | larval stage (with Df(2R)Dll-MP)

(Koh et al., 2007)

abnormal neurophysiology | larval stage (with Eps-15^Δ29)

(Koh et al., 2007)

lethal

(Koh et al., 2007)

lethal - all die before end of larval stage (with Df(2R)Dll-MP)

(Koh et al., 2007)

lethal - all die before end of P-stage (with Eps-15^Δ29)

(Koh et al., 2007)

some die during pharate adult stage (with Eps-15^Δ29)

(Koh et al., 2007)

some die during third instar larval stage (with Df(2R)Dll-MP)

(Koh et al., 2007)

Phenotype Manifest In

bouton (with Eps-15^Δ29)

(Koh et al., 2007)

bouton | increased number (with Eps-15^Δ29)

(Koh et al., 2007)

embryonic/larval neuromuscular junction (with Df(2R)Dll-MP)

(Koh et al., 2007)

embryonic/larval neuromuscular junction (with Eps-15^Δ29)

(Koh et al., 2007)

Detailed Description

Statement

Reference

The neuromuscular junctions of Eps-15^e75/Eps-15^Δ29 third instar larvae show impaired FM1-43FX dye uptake compared to wild type, indicating a defect in synaptic vesicle endocytosis.

(Nahm et al., 2013)

The average number of boutons per neuromuscular junction (NMJ) is increased in Eps-15^e75/Eps-15^Δ29 mutant larvae. In addition, the mutant NMJs have more boutons with two branches and more boutons with three or more branches than controls.

Spontaneous miniature excitatory junctional potentials (mEJPs) at the NMJ of Eps-15^e75/Eps-15^Δ29 larvae have a similar amplitude, but higher frequency, than those of controls.

When the NMJ of Eps-15^e75/Eps-15^Δ29 or Eps-15^e75/Df(2R)Dll-MP larvae is stimulated at a low frequency, evoked EJPs have a similar amplitude to those of controls. However, under high-frequency stimulation conditions (10Hz for 10 minutes), the mutant NMJs show strong synaptic depression to approximately 40% of the initial EJP amplitude (in contrast to control NMJs, which are able to maintain EJPs at approximately 90% of the initial amplitude).

Eps-15^e75/Eps-15^Δ29 third instar larvae show severely reduced dye uptake at the neuromuscular junction during nerve stimulation compared to controls, indicating a defect in endocytosis.

The mean vesicle density in Eps-15^e75/Eps-15^Δ29 larval boutons at rest is not significantly different from that of controls, although there is an increased proportion of abnormally large vesicles or cisternae in the resting mutant boutons. During a 90mM K[+] stimulation, the mutant boutons show a reduction in mean vesicle density compared to controls and there is an increased proportion of large cisternae that are greater than 85nm in size (some of these cisternae appear to be large membrane invaginations which are contiguous with the plasma membrane). When the mutant boutons are allowed to recover for 1 minute after stimulation, the mean vesicle density shows a poor recovery, being reduced compared to resting levels (in contrast to wild-type boutons which recover the vesicle density to resting levels). The size distribution of boutons after a 1 minute recovery from stimulation is normal in the mutants.

(Koh et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

Eps-15^e75 is a suppressor | partially of wing vein L5 phenotype of Df(3L)ru-22/rho^ve-1

(Tjota et al., 2011)

Eps-15^e75 is a suppressor of wing vein L5 phenotype of rho^ve-1

(Tjota et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Eps-15^e75/+ ; spartin¹/+ double heterozygotes show impaired FM1-43FX dye uptake at the neuromuscular junction compared to wild type.

(Nahm et al., 2013)

An Eps-15^e75 heterozygous background leads to approximately 70% suppression of the L5 wing vein defect in both rho^ve-1/Df(3L)ru-22 kst¹ and rho^ve-1/rho^ve-1 kst¹ flies.