FlyBase Allele Report: Dmel\ems[2]

General Information

Symbol

Dmel\ems²

Species

D. melanogaster

Name

FlyBase ID

FBal0003713

Feature type

allele

Associated gene

Dmel\ems

Associated Insertion(s)

Carried in Construct

Also Known As

ems^9H83, ems^9H

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Jones and McGinnis, 1993, Cohen and Jurgens, 1990, Dalton et al., 1989)

Mutagen

ethyl methanesulfonate

Progenitor genotype

Cytology

Description

stop codon at residue 161

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:13,902,659..13,902,659 [+]

Nucleotide change:

C13902659T

Amino acid change:

Q161term | ems-PA

Reported amino acid change:

Q161term

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Dalton et al., 1989)

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

abnormal neuroanatomy

(Dalton et al., 1989)

Phenotype Manifest In

Detailed Description

Statement

Reference

56% of mutant embryos show brain defects; the brain has a deletion in the deutocerebral and tritocerebral brain anlagen, which leads to a prominent gap devoid of neuronal cells between the remaining protocerebral brain hemispheres and the subesophageal neuromeres.

66% of mutant embryos have an "open-head" phenotype in which the anterodorsal head ectoderm is defective. Head involution is perturbed and brain hemispheres protrude out of the embryo at the gap in the dorsal head.

(Hartmann et al., 2010)

The tracheal placodes are slightly smaller than normal in mutant embryos. The visceral branches of the tracheal system generally fail to form. Occasionally, the ganglionic or dorsal branches appear truncated.

(Ebner et al., 2002)

In an ems² mutant the ems staining interneurons in the ventral nerve cord do not extend axons across the midline and turn rostrally during stages 13-14 as seen in wild-type.

(Hartmann et al., 2000)

The stigmatophore protrudes normally but the spiracular chamber is defective in that it lacks a filzkorper and is not connected to the trachea. The stigma in developing embryos fails to slide posteriorly, a phenotype similar to that seen in Abd-B^M1 mutants. The spiracle cells that are in contact with the trachea fail to invaginate, perhaps causing the failure of posterior sliding of the developing stigmatophore.

(Hu and Castelli-Gair, 1999)

Neuromeres b2 and 3 are absent or reduced in all embryos.

(Hirth et al., 1995)

Fail to develop filzkorper and the remaining spiracular structures are intact.

(Jones and McGinnis, 1993)

Embryos have no Dll expression in the antennae primordium, it is expressed in other limb primordium. Intercalary and antennal segments and a portion of the pre-antennal region defined by the en head spot are absent in ems mutant embryos.

(Cohen and Jurgens, 1990)

Absence of head structures.

(Dalton et al., 1989)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

ems² has abnormal neuroanatomy phenotype, suppressible by Mmus\Emx2^hs.PH

(Hartmann et al., 2000)

Phenotype Manifest In

Suppressed by

Statement

Reference

ems² has larval ventral nerve cord phenotype, suppressible by Mmus\Emx2^hs.PH

(Hartmann et al., 2000)

ems² has larval longitudinal connective phenotype, suppressible by Mmus\Emx2^hs.PH

(Hartmann et al., 2000)

NOT suppressed by

Statement

Reference

ems² has embryonic brain phenotype, non-suppressible by Scer\GAL4^sca-537.4/oc^UAS.cBa

(Hartmann et al., 2010)

ems² has embryonic head epidermis phenotype, non-suppressible by Scer\GAL4^sca-537.4/oc^UAS.cBa

(Hartmann et al., 2010)

ems² has larval ventral nerve cord commissure phenotype, non-suppressible by Mmus\Emx2^hs.PH

(Hartmann et al., 2000)

Other

Statement

Reference

Df(2L)32FP-5, ct^db7, dome^G0468, ems² has embryonic/larval spiracle phenotype

(Lovegrove et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of oc^Scer\UAS.cBa under the control of Scer\GAL4^sca-537.4 does not significantly rescue the embryonic brain defects or the "open-head" ectoderm defects of ems² mutants.

(Hartmann et al., 2010)

Quadruple ct^db7, Df(2L)32FP-5 (deficiency for sal), ems², dome^G0468 mutants are missing spiracle structures completely.

(Lovegrove et al., 2006)

Xenogenetic Interactions

Statement

Reference

Expression of Zzzz\emx^Scer\UAS.cHa under the control of Scer\GAL4^sca-537.4 does not result in a significant rescue of the embryonic brain defects of ems² mutants, but there is significant rescue of the "open-head" ectoderm defects of ems² mutants in these animals.

Expression of Zzzz\emx^+hp.Scer\UAS under the control of Scer\GAL4^sca-537.4 does not result in a significant rescue of the embryonic brain defects of ems² mutants.

(Hartmann et al., 2010)

Heatshocked induced ubiquitous expression of Mmus\Emx2^hs.PH in ems² null mutants leads to substantial restoration of brain morphology. In a quarter of cases the cellular gap and the longitudinal ganglion are restored, however projection defects are not rescued.

(Hartmann et al., 2000)

Complementation and Rescue Data

Rescued by

ems² is rescued by ems^UAS.cRa/Scer\GAL4^sca-537.4

(Hartmann et al., 2010)

ems² is rescued by ems^-hp.UAS/Scer\GAL4^sca-537.4

(Hartmann et al., 2010)

Partially rescued by

ems² is partially rescued by ems^hs.PH

(Hartmann et al., 2000)

Comments

Expression of either ems^Scer\UAS.cRa or ems^-hp.Scer\UAS under the control of Scer\GAL4^sca-537.4 significantly rescues the embryonic brain defects and the "open-head" ectoderm defects of ems² mutants.

(Hartmann et al., 2010)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Jurgens, Wieschaus, Nusslein-Volhard and Kluding, 1984.

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

ems²

ems^9H83

(Molina-Gil et al., 2023, Hartmann et al., 2010, Seibert et al., 2009, Krattinger et al., 2007, Ebner et al., 2002, Hartmann et al., 2000, Hu and Castelli-Gair, 1999, Macias and Morata, 1996, Hirth et al., 1995, Jones and McGinnis, 1993, Dalton et al., 1989)

ems^9H

(Tsikala et al., 2014, Lovegrove et al., 2006, Wimmer et al., 1995, Cohen and Jurgens, 1990)

Name Synonyms

Secondary FlyBase IDs

References (16)

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