FB2025_01 , released February 20, 2025
Allele: Dmel\htlEMS2
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General Information
Symbol
Dmel\htlEMS2
Species
D. melanogaster
Name
FlyBase ID
FBal0150432
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Cytology
Description

Amino acid replacement: ?491term.

Nucleotide substitution: C2638T.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

C18046405T

Reported nucleotide change:

C2638T

Amino acid change:

R506term | htl-PA; R506term | htl-PB; R506term | htl-PC

Reported amino acid change:

R491term

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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

Mutant embryos have defects in salivary gland shape and position that appear to result from abnormal migration. Defects include secretory tubes oriented on the dorsoventral axis, relatively straight tubes with only the distal tips misoriented and tubes with multiple kinks along their length. The defects in the salivary glands are first seen at stage 12, when salivary cells are seen in positions dorsal to the wild-type turning point (the point where the cells turn to reorient their movement posteriorly in wild-type embryos), suggesting a failure to turn posteriorly in the mutant embryos. The visceral mesoderm is disrupted in mutant embryos, with variably sized fragments of visceral mesoderm at the normal position of the visceral mesoderm. In mutant stage 12 embryos where no visceral mesoderm (VM) is present at the salivary cell turning point, the distal tip of the salivary gland is seen dorsal to the level of the remaining VM fragments, indicating that the salivary cells have continued to migrate dorsally, instead of turning posteriorly at the turning point. In embryos where a small VM fragment is present at the turning point, posterior migration of the salivary gland varies. In embryos where VM is present at the turning point, salivary gland cells initiate posterior migration as in wild type. Salivary gland shape and position is abnormal in htlAB42/htlEMS2 embryos.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Symbol Synonym
htlEMS2
Name Synonyms
Secondary FlyBase IDs
    References (1)