FlyBase Allele Report: Dmel\Ank2[XLΔ]

General Information

Symbol

Dmel\Ank2^XLΔ

Species

D. melanogaster

Name

FlyBase ID

FBal0322818

Feature type

allele

Associated gene

Dmel\Ank2

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

minos activity

Nature of the Allele

Allele class

Mutagen

minos activity

(Stephan et al., 2015)

Progenitor genotype

Mi{ET1}Ank2^MB04517

(Stephan et al., 2015)

Cytology

Description

Mutation that affects only the Ank2 XL isoform. Imprecise excision of the Mi{ET1}Ank2^MB04517 insertion, leaving two additional base pairs (duplication of target recognition sequence) at the site of the original insertion. The 2bp insertion results in a premature stop codon after V2666 of the open reading frame of the Ank2 XL isoform.

(Stephan et al., 2015)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

3L:7,693,056..7,693,057 [-]

Comment:

Mutation resulting from the imprecise excision of Mi{ET1}Ank2^MB04517. The excision leaves behind a 2 bp insertion at the site of the original insertion. This causes a stop codon just after amino acid 2666 (at the site of the insertion). This affects isoforms Ank2- PU and Ank2-PAA of the FlyBase annotated transcripts.

Inserted_sequence:

(Stephan et al., 2015)

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

abnormal neuroanatomy | larval stage

(Stephan et al., 2015)

Phenotype Manifest In

Detailed Description

Statement

Reference

Larval muscle 4 neuromuscular junctions in Ank2^XLΔ homozygotes display a significant decrease in the number of synaptic boutons, in parallel with bouton fusion and pronounced microtubule accumulation in the nerve terminal, as compared to controls.

(Migh et al., 2018)

Ank2^XLΔ/Ank2^XLΔ mutant 1st, 2nd and 3rd instar larval neuromuscular junctions exhibit a dramatic perturbation of presynaptic microtubule cytoskeleton organization in central, but not terminal, boutons, as compared to controls, with large aggregates of microtubules filling the entire cytoplasmic space normally occupied by several separated synaptic boutons; there is a significant increase in the number of very large and very small synaptic boutons; mutants do not show a difference in evoked postsynaptic potential (EPSP) or mEPSP amplitude or quantal content; and these mutants do not exhibit synaptic retraction, as compared to controls. Type 1b axons innervating NMJs exhibit aberrant axonal microtubule accumulations in Ank2^XLΔ/Ank2^XLΔ mutants, especially at sites where individual axons exit major nerve bundles.

(Stephan et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Ank2^XLΔ has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by futsch^K68/futsch^K68

(Stephan et al., 2015)

Enhancer of

Statement

Reference

Ank2^XLΔ/Ank2^XLΔ is an enhancer of abnormal neuroanatomy | larval stage phenotype of futsch^K68

(Stephan et al., 2015)

Other

Statement

Reference

Ank2^XLΔ, futsch^K68 has abnormal neurophysiology phenotype

(Stephan et al., 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

Ank2^XLΔ has embryonic/larval neuromuscular junction | larval stage phenotype, enhanceable by DAAM^Ex68/DAAM^Ex68

(Migh et al., 2018)

Ank2^XLΔ has NMJ bouton | larval stage phenotype, enhanceable by DAAM^Ex68/DAAM^Ex68

(Migh et al., 2018)

Suppressed by

Statement

Reference

Ank2^XLΔ has embryonic/larval neuromuscular junction | larval stage phenotype, suppressible | partially by DAAM^Ex68/DAAM^Ex68

(Migh et al., 2018)

Ank2^XLΔ has microtubule | larval stage phenotype, suppressible | partially by DAAM^Ex68/DAAM^Ex68

(Migh et al., 2018)

Ank2^XLΔ has embryonic/larval neuromuscular junction | larval stage phenotype, suppressible | partially by futsch^K68/futsch^K68

(Stephan et al., 2015)

Ank2^XLΔ has microtubule | larval stage phenotype, suppressible | partially by futsch^K68/futsch^K68

(Stephan et al., 2015)

Enhancer of

Statement

Reference

Ank2^XLΔ/Ank2^XLΔ is an enhancer of embryonic/larval neuromuscular junction | larval stage phenotype of futsch^K68

(Stephan et al., 2015)

Ank2^XLΔ/Ank2^XLΔ is an enhancer of microtubule | larval stage phenotype of futsch^K68

(Stephan et al., 2015)

NOT Enhancer of

Statement

Reference

Ank2^XLΔ/Ank2^XLΔ is a non-enhancer of NMJ bouton | larval stage phenotype of DAAM^Ex68

(Migh et al., 2018)

Suppressor of

Statement

Reference

Ank2^XLΔ/Ank2^XLΔ is a suppressor | partially of embryonic/larval neuromuscular junction | larval stage phenotype of DAAM^Ex68

(Migh et al., 2018)

Other

Statement

Reference

Ank2^XLΔ, futsch^K68 has axon | larval stage phenotype

(Stephan et al., 2015)

Ank2^XLΔ, futsch^K68 has motor neuron | larval stage phenotype

(Stephan et al., 2015)

Ank2^XLΔ, futsch^K68 has synapse | larval stage phenotype

(Stephan et al., 2015)

Ank2^XLΔ, futsch^K68 has NMJ bouton | larval stage phenotype

(Stephan et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

futsch^K68/futsch^K68 suppresses the aberrant microtubule aggregations in Ank2^XLΔ/Ank2^XLΔ mutant larval neuromuscular junctions and the axons innervating NMJs, but Ank2^XLΔ/Ank2^XLΔ enhances the decrease in the diameter of the microtubule core filament seen in futsch^K68/futsch^K68 mutants; futsch^K68/futsch^K68, Ank2^XLΔ/Ank2^XLΔ double mutants show perturbation of the area of individual synaptic boutons, either dramatically increased or reduced to small varicosities; double mutants exhibit a dramatic reduction in evoked postsynaptic potential (EPSP) amplitude, quantal content, and propagation time from stimulation artefact to the start of EPSP, but no changes in mEPSP amplitude; axon diameter of individual muscle 4 motoneurons is significantly reduced; and double mutants exhibit a significant increase in the fraction of stationary mitochondria and a decrease in anterograde transport velocities in axons, as compared to controls.

(Stephan et al., 2015)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Ank2-XLΔ

(Migh et al., 2018)

Ank2^XLΔ

ank2-XL^Δ

(Stephan et al., 2015)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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