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General Information
Symbol
Dmel\Sec239G
Species
D. melanogaster
Name
FlyBase ID
FBal0005382
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
point mutation
Nucleotide change:

C5650083T

Reported nucleotide change:

C643T

Amino acid change:

Q215term | Sec23-PA; Q215term | Sec23-PB; Q215term | Sec23-PD; Q215term | Sec23-PE; Q215term | Sec23-PF; Q215term | Sec23-PG; Q215term | Sec23-PH

Reported amino acid change:

Q215term

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Nucleotide substitution: C643T.

Amino acid replacement: Q215term.

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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Sec239G mutant embryos display tracheal tube diameter abnormalities.

Homozygous, sec239G/sec23CK or sec239G/Df(3R)ED5187 animals exhibit the same defects. Mutant embryos produce a discontinuous or thin larval cuticle, tracheae do not become air-filled and are barely visible, and the head skeleton is less melanised (though has normal morphology). Ventral denticles and dorsal hairs are missing, though the surface is not smooth but wrinkly. There is reduced chitin in the epidermis and trachea. Animals die at the first instar larval stage within the egg case.

The cuticle of mutant larvae is disorganized: it has a reduced epicuticle layer that often contacts the envelope, and the chitin-protein organization of the procuticle layer is lost. The envelope layer is of normal appearance. The epidermal cells usually do not establish apical undulae.

The epidermis of mutant larvae eventually disintegrates and single cells leave the tissue. In contrast to wild type, sec239G cells are cuboidal or round and their lateral membrane does not meander. Adherens junctions look loose and basolateral septate junctions are less complex compared to wild type. Occasionally, cell-cell contacts are lost.

In contrast to wild type, mutant epidermal cells lack a basement membrane and the basal plasma membrane is smooth rather than jagged. Muscles often detach from the apodemal cells.

In late stage 17 mutant embryos, the chitin cables of the dorsal trunk are properly formed but the tracheal lumen is much narrower compared to wild type. The larval tracheal cuticle dilates and the taenidial folds are sloppy: their size is variable and their spacing is irregular. The lumen of larval tracheae is not completely cleared of solid material.

The ER of mutant epidermal and tracheal cells consists of large spherical compartments instead of tubules as in wild type. Perinuclear ER is affected as well. These defects can be traced back to stage 15. Tracheal ER appears to be less affected than in the epidermis.

The organization and identity of the Golgi apparatus are compromised in mutant epidermal cells at embryonic stage 16.

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 (1)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (5)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (5)