FlyBase Allele Report: Dmel\spas[17-7]

General Information

Symbol

Dmel\spas^17-7

Species

D. melanogaster

Name

FlyBase ID

FBal0177737

Feature type

allele

Associated gene

Dmel\spas

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Sherwood et al., 2004)

Progenitor genotype

P{EP}spas^T32

(Sherwood et al., 2004)

Cytology

Description

Imprecise excision of the P{EP}spas^T32 insertion has created a 1.2kb deletion that spans from the insertion site to partway through the first intron.

(Sherwood et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 ( 1 )

Disease

Evidence

References

model of hereditary spastic paraplegia

CEA

(Sherwood et al., 2004)

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 behavior

(Sherwood et al., 2004)

abnormal flight

(Sherwood et al., 2004)

abnormal locomotor behavior | progressive (with spas^5.75)

(Madabattula et al., 2015)

abnormal neurophysiology (with spas^5.75)

(Sherwood et al., 2004)

short lived

(Sherwood et al., 2004)

Phenotype Manifest In

Detailed Description

Statement

Reference

spas^5.75/spas^17-7 mutants exhibit significantly decreased climbing performance at 2 days old, and climbing performance worsens by 8 days old.

(Madabattula et al., 2015)

Mutant larvae have bouton numbers that do not differ significantly from controls. spas^5.75/spas^17-7 larvae, there is a reduction seen in the amplitudes of evoked responses (excitatory junction potentials - EJPs) to depolarisation of the innervating nerves. Average EJP amplitudes are reduced. Quantal content is reduced to 78% of control levels at 18^oC, at 29^oC the QC is 54% of wild-type. Mutant adults exhibit reduced flying ability. These animals climbing ability is close to wild-type. Mutant adults have an average lifespan of about 8 days (compared to 46 days for controls). These flies have a bimodal lifespan distribution. Only 55% of flies are still alive after 4 d post-eclosion, but most of these (37% of the total) then remain alive until about 25 d post-eclosion. After this time they rapidly die off and no flies remain alive more than 33 days.

(Sherwood et al., 2004)

External Data

Linkouts

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 (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

spas^17-7

(Julien et al., 2016, Madabattula et al., 2015)

spastin^17-7

(Yao et al., 2011)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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