FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Ank2E380
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General Information
Symbol
Dmel\Ank2E380
Species
D. melanogaster
Name
FlyBase ID
FBal0242105
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: Q1683term.

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

C7698909T

Amino acid change:

Q1683term | Ank2-PAA; Q1730term | Ank2-PAB; Q1842term | Ank2-PAC; Q1714term | Ank2-PF; Q1683term | Ank2-PG; Q1683term | Ank2-PJ; Q1864term | Ank2-PK; Q1683term | Ank2-PL; Q1683term | Ank2-PM; Q1690term | Ank2-PP; Q1721term | Ank2-PQ; Q1864term | Ank2-PR; Q1683term | Ank2-PS; Q1683term | Ank2-PT; Q1683term | Ank2-PU; Q1833term | Ank2-PV; Q1683term | Ank2-PY; Q1833term | Ank2-PZ

Reported amino acid change:

Q1683term

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

Neuromuscular junctions of Ank2E380/Ank2K327 larvae have fewer but larger boutons than normal. The presynaptic endings often appear grossly enlarged. The synaptic span (the widest extension of synaptic branches along a muscle fibre) is reduced compared to wild type. Ultrastructurally, the number and morphology of mitochondria appears relatively normal, while there is a slight reduction in the thickness of the subsynaptic reticulum and a higher frequency of large "clear" vesicles and multivesicular bodies than normal. The mutant neuromuscular junctions have large continuous presynaptic cavities which completely lack the "bottleneck" regions (thin axonal connections between bouton cavities) found in wild-type.

Tubulin accumulations are seen to fill entire boutons in some Ank2E380/Ank2K327 larval neuromuscular junctions. These accumulations resemble axonal retraction bulbs, and usually occur at the end of microtubule cables.

The microtubule cytoskeleton appears structurally normal in the peripheral nerves of Ank2E380/Ank2K327 larvae. However, the distribution of synaptic vesicles is abnormal, with clusters of vesicles being present in the mutant peripheral nerves.

Ank2E380/Ank2K327 larvae show a decrease in the number of synaptic boutons/muscle area along the anterior-posterior axis, in contrast to wild type.

External Data
Interactions
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Phenotypic Class
Phenotype Manifest In
Additional Comments
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Statement
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Xenogenetic Interactions
Statement
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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 (2)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (2)