FB2025_01 , released February 20, 2025
Allele: Dmel\fs(1)N12
Open Close
General Information
Symbol
Dmel\fs(1)N12
Species
D. melanogaster
Name
FlyBase ID
FBal0004463
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
fs(1)N211, fs(1)Nas211
Key Links
Genomic Maps

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

Amino acid replacement: P830L.

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

C1325293T

Amino acid change:

P830L | fs(1)N-PA

Reported amino acid change:

P830L

Comment:

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

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

fs(1)N14/fs(1)N12 mothers produce embryos with a terminal phenotype.

Embryos derived from homozygous females show a terminal phenotype.

Deletion of anterior and posterior structures.

Failure to differentiate cuticular structures derived from the anterior and posterior regions of the egg.

A hole is seen in the blastoderm layer below the pole cells in embryos. The ventral furrow is extended posteriorly. Segments A8 to the telson are deleted. Segments A5 to A7 are expanded. Some twisting of the germband is seen. Labral and acron-derived structures are deleted. There is cell death in the head and tail region.

A single tor11D allele variably suppresses the phenotype caused by fs(1)N12 in embryos derived from females homozygous for fs(1)N12 and heterozygous for tor11D.

Embryos display a tor phenotype.

Eggs are laid but collapse on deposition.

Homozygous fs(1)N12 females produce embryos with defects in anterior and posterior development (Degelmann, Hardy, Perrimon and Mahowald, 1986; Degelmann, Hardy and Mahowald, 1990). Head involution fails; anterior endodermal derivatives are deficient and the absence of pharyngeal musculature causes collapse of the cephalopharyngeal apparatus. Embryos lack all posterior endodermal derivatives as well as structures characteristic of abdominal segments 8 to 10 usually, but have six abdominal denticle belts, and occasionally partial seventh or seventh and eighth. In addition, posterior midgut, hindgut, Malpighian tubules, filzkorper, spiracles, anus, anal pad and anal tuft absent; lateral tracheal trunks end blindly, usually in the sixth segment; posterior disorganization of CNS seen. Pole cells form abnormally and seldom migrate to form the gonad; posterior blastoderm nuclei fail to cellularize and the centrosome position vis a vis the blastoderm nuclei erratic; remarkably free of microtubules. Six rather than seven stripes of ftz transcription seen in blastoderm, with the sixth stripe wider than normal and separated from the fifth by a wider-than-normal space. At gastrulation neither posterior midgut invagination nor proctodeal invagination occur normally.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Suppressor of
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

Embryos derived from fs(1)N12 females carrying tsltor.PF show no rescue of the fs(1)N12 phenotype and do not show deletions of the middle segments ("splice" phenotype seen in wild-type embryos carrying tsltor.PF).

In double mutants Pc3, fs(1)N12, exu1, fs(1)N12, vas1, fs(1)N12 and BicD, fs(1)N12 all abdominal segments are transformed to the eighth abdominal segment. Double homozygous females fs(1)N12, trk4 and fs(1)N12, fs(1)M31901 produce embryos with the terminal cuticle phenotype.

Xenogenetic Interactions
Statement
Reference
Complementation and Rescue Data
Fails to complement
Comments
Images (0)
Mutant
Wild-type
Stocks (2)
Notes on Origin
Discoverer

Engstrom.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (7)
References (15)