FB2024_03 , released June 25, 2024
Allele: Dmel\ems1
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General Information
Symbol
Dmel\ems1
Species
D. melanogaster
Name
FlyBase ID
FBal0003712
Feature type
allele
Associated gene
Dmel\ems
Associated Insertion(s)
Carried in Construct
Also Known As
ems7D99, ems7D
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Younossi-Hartenstein et al., 1997, Walldorf and Gehring, 1992, Tearle and Nusslein-Volhard, 1987)
Progenitor genotype
Cytology
Description

There is a single base pair change of T to A in helix 3 of the homeobox, which changes a valine to a glutamic acid residue.

(Walldorf and Gehring, 1992)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:13,903,763..13,903,763 [+]
Nucleotide change:

T13903763A

Reported nucleotide change:

T?A

Amino acid change:

V432E | ems-PA

Reported amino acid change:

V?E

(Walldorf and Gehring, 1992)
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
      Detailed Description
      Statement
      Reference

      In ems1/ems3 embryos, the maxillary-mandibular boundary develops normally, but a loss of the mandibular segment is observed.

      (Stöbe et al., 2009)

      Strong allele. Embryos have defects in the deutocerebrum and tritocerebrum. The protocerebrum is normal, but the deutocerebrum and tritocerebrum are reduced in size in late embryos. The cervical connective often does not form.

      (Younossi-Hartenstein et al., 1997)

      Nondefective in gonad assembly.

      (Warrior, 1994)

      Embryos lack filzkorper.

      (Strecker et al., 1992)

      The anterior border of the mandibular lobe and the entire optic lobe are missing in homozygous embryos. The maxillary lobe is an abnormal shape. Head involution does not occur in the embryo.

      (Walldorf and Gehring, 1992)

      Does not interact with RpII140wimp maternal effect.

      (Parkhurst and Ish-Horowicz, 1991)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (2)
      Notes on Origin
      Discoverer

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

      Comments
      Comments

      The effects of the ems1 mutation on the spatial expression of hh and wg during embryogenesis have been investigated.

      (Mohler, 1995)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      References (18)