FlyBase Allele Report: Dmel\egl[3e]

General Information

Symbol

Dmel\egl^3e

Species

D. melanogaster

Name

FlyBase ID

FBal0057538

Feature type

allele

Associated gene

Dmel\egl

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: S954L.

(Navarro et al., 2004)

Nucleotide substitution: C3759T.

(Navarro et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:23,735,696..23,735,696 [-]

Nucleotide change:

C23735696T

Reported nucleotide change:

C3759T

Amino acid change:

S965L | egl-PB; S965L | egl-PC

Reported amino acid change:

S954L

Comment:

The mutation was mapped as S954L with respect to GB:U86404. It maps to residue 965 the current annotation due to the use of a translation start further upstream.

(Navarro et al., 2004)

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

Phenotype Manifest In

egg chamber

(Navarro et al., 2004)

embryonic/larval salivary gland (with egl⁴)

(Maybeck and Röper, 2009)

embryonic epidermis (with egl⁴)

(Maybeck and Röper, 2009)

embryonic neuroblast (with egl¹)

(Hughes et al., 2004)

embryonic neuroblast & spindle (with egl¹)

(Hughes et al., 2004)

karyosome, with egl^dlc2pt.otu

(Navarro et al., 2004)

karyosome (with egl^dlc2pt.otu)

(Navarro et al., 2004)

ovary

(Navarro et al., 2004)

synaptonemal complex

(Navarro et al., 2004)

Detailed Description

Statement

Reference

Embryos derived from egl^3e/egl¹ mothers mated to egl⁴/+ fathers often show a disrupted epidermis. At stage 13, the salivary gland placode area is often disrupted. Salivary gland morphogenesis is disrupted in that cells of the placode often do not change their apices in a coordinated way; the invagination hole appears too large and extended; and the invaginated portion of the glands often has an irregular shape.

(Maybeck and Röper, 2009)

12% of neuroblast mitoses are more than 45^o off-axis in embryos derived from egl^3e/egl¹ females (in contrast to wild type where all neuroblast divisions are oriented within 45^o of the apicobasal axis). The average length of metaphase spindles in these mutant neuroblasts is significantly less than normal.

(Hughes et al., 2004)

egl^3e mutant ovaries exhibit a phenotype similar to egl^dlc2pt.otu mutant ovaries. In approximately 70% of egl^3e mutant germaria examined, the synaptonemal complex is formed and restricted to one cell by stage one (as in wild-type), but the localisation of the synaptonemal complex to the oocyte is not maintained. In the remaining 30% of cases, restriction of the synaptonemal complex to a single cell is delayed.

In egl^3e/egl^dlc2pt.otu mutants the karyosomes of mature egg chambers do not form properly. In addition, the chromatin of these cells appears fragmented or condensed.

egl^3e/egl¹ mutant egg chambers exhibit incorrectly formed karyosomes, with fragmented or decondensed chromatin.

(Navarro et al., 2004)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

egl^3e is a suppressor of partially lethal - majority die | embryonic stage phenotype of BicD^D, stau^unspecified

(Navarro et al., 2004)

egl^3e/stau^unspecified is a suppressor of partially lethal - majority die | embryonic stage phenotype of BicD^D

(Navarro et al., 2004)

Phenotype Manifest In

Suppressed by

Statement

Reference

egl^3e/egl¹ has embryonic neuroblast & spindle phenotype, suppressible by insc^hs.PKb

(Hughes et al., 2004)

Enhancer of

Statement

Reference

egl^3e/egl¹ is an enhancer of embryonic/first instar larval cuticle phenotype of ftz¹³

(Bullock et al., 2004)

egl^3e/egl¹ is an enhancer of embryonic/first instar larval cuticle phenotype of eve^1.27

(Bullock et al., 2004)

egl^3e/egl¹ is an enhancer of embryonic/first instar larval cuticle phenotype of hryⁱ²²

(Bullock et al., 2004)

NOT Enhancer of

Statement

Reference

egl^3e/egl¹ is a non-enhancer of embryonic/first instar larval cuticle phenotype of Kr¹

(Bullock et al., 2004)

Suppressor of

Statement

Reference

egl^3e is a suppressor of phenotype of BicD^D

(Mach and Lehmann, 1997)

NOT Suppressor of

Statement

Reference

egl^3e/egl¹ is a non-suppressor of embryonic/first instar larval cuticle phenotype of Kr¹

(Bullock et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

The frequency of cuticular segmentation phenotypes in eve^1.27/+ first instar larvae is significantly enhanced in animals with a egl^3e/egl¹ mutant mother. The frequency of cuticular segmentation phenotypes in ftz¹³/+ first instar larvae is significantly enhanced in animals with a egl^3e/egl¹ mutant mother. The frequency of cuticular segmentation phenotypes in hⁱ²²/+ first instar larvae is significantly enhanced in animals with a egl^3e/egl¹ mutant mother. The frequency of cuticular segmentation phenotypes in Kr¹/+ first instar larvae is not significantly changed in animals with a egl^3e/egl¹ mutant mothers, however the identity of segments affected differs slightly: there are less defects in A1 and A2, and more defects in A3. The frequency of cuticular segmentation phenotypes in wg^l-17/+ first instar larvae is not significantly changed in animals with a egl^3e/egl¹ mutant mother.

(Bullock et al., 2004)

Expression of insc^hs.PKb rescues the average length of metaphase spindles in neuroblasts of embryos derived from egl^3e/egl¹ females to a value similar to wild type.

(Hughes et al., 2004)

BicD^D stau^unspecified / egl^3e triple mutants exhibit a 46% hatch-rate, compared to BicD^D stau^unspecified double mutants, which exhibit a hatch-rate of 19%. This indicates suppression of the BicD^D stau^unspecified phenotype by egl^3e.

(Navarro et al., 2004)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially complements

egl^4e

(Navarro et al., 2004)

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

A. Ephrussi and F. Pelegri.

(Mach and Lehmann, 1997)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

egl^3e

(Maybeck and Röper, 2009, Bullock et al., 2006, Bullock et al., 2006, Delanoue and Davis, 2005, Navarro et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (8)

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