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General Information
Symbol
Dmel\TorsinKO13
Species
D. melanogaster
Name
FlyBase ID
FBal0264561
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
dtorsinKO13
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
deletion
Comment:

Deletion by targeted homologous recombination of sequences from the initiator ATG to 16 bases upstream of the translation termination codon.

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

Torsin coding sequence from the translation start codon to 16 bases upstream of the translation termination codon has been deleted and replaced by a w+mW.hs marker.

Insertion components
TI{TI}TorsinKO13
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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

TorsinKO13 hemizygous males display deficit in larval (decreased peristaltic rate) as well as adult locomotion.

Only a few TorsinKO13/Y adult males survive. These are sterile, have a pale body colour, have short and thin bristles, and move slowly.

Most TorsinKO13/Y animals develop to late third instar larvae and die at the pre-pupal stage. Some mutants enter pupation but fail to eclose. In isolated cultures of hemizygous TorsinKO13 larvae, about 10% of these develop to the adult stage. In mixed cultures, very few TorsinKO13/Y males develop to the adult stage.

TorsinKO13/Y third instar larvae exhibit approximately a 50% decrease in stride frequency compared to wild type. They also frequently stop and change direction, often circling around the same location, whereas wild type larvae move in a relatively straight line.

Adding 20mM dopamine in the food during the larval stage significantly increases the stride frequency of TorsinKO13/Y larvae and results in relatively straight crawling patterns. The reduced cuticular pigmentation phenotype of surviving TorsinKO13/Y adults is also partially rescued by dopamine supplementation.

Dopamine levels are significantly reduced in larval brains and adult heads of TorsinKO13/+ adult females compared to wild type. The levels of the dopamine metabolite DOPAC are also decreased in TorsinKO13/+ adult female heads, though not proportional to the reduction in dopamine levels.

The number of dopaminergic, ple-positive cell bodies in TorsinKO13/Y larval brains is approximately normal. However, there are some apparent morphological changes in the positioning of these cell bodies and in the patterning of ple-positive axons in the central brain region.

Heterozygotes show no significant difference in tyrosine hydroxylase activity, but do show a significant reduction in GTP cyclohydrolase activity, compared to wild type controls.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
Suppressed by
NOT suppressed by
Other
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

Double heterozygous TorsinKO13/+; PuZ22/+ female larvae show very significantly reduced peristaltic frequency relative to either single heterozygote.

While TorsinKO13/Y third instar larvae are mostly viable, very few TorsinKO13/Y ; PuZ22/+ third instar larvae are observed.

Double heterozygous TorsinKO13/+; ple2/+ female larvae show a slight but significant reduction in peristaltic frequency relative to either single heterozygote.

Double heterozygous TorsinKO13/+; DATfmn/+ female larvae show a similar peristaltic frequency as either single heterozygote, and the DATfmnallele has no effect on the mobility of TorsinKO13/Y males.

Xenogenetic Interactions
Statement
Reference

The deficit in larval (decreased peristaltic rate) as well as adult locomotion characteristic for TorsinKO13/Y hemizygotes can be rescued by expression of Hsap\TOR1AScer\UAS.cWa, but not by expression of either Hsap\TOR1AΔE.Scer\UAS.cWa alone or by combined expression of Hsap\TOR1AScer\UAS.cWa and Hsap\TOR1AΔE.Scer\UAS.cWa) under the control of Scer\GAL4elav.PU in the mutant background.

Expression of Hsap\TOR1AScer\UAS.cWa using Scer\GAL4Act5C.PU or Scer\GAL4tub.PU rescues the pigmentation, bristle and mobility defects of TorsinKO13/Y animals at very low frequency.

Expression of Hsap\TOR1AScer\UAS.cWa using Scer\GAL4elav.PU results in a very significant rescue of the TorsinKO13/Y larval mobility defect.

Complementation and Rescue Data
Comments

The deficit in larval locomotion (decreased peristaltic rate) characteristic for TorsinKO13 hemizygous male third instar larvae can be rescued by expression of either TorsinScer\UAS.cWa (the rescuing effect is not enhanced further when two copies of the same transgene are used) or TorsinΔD.Scer\UAS but not TorsinΔE.Scer\UAS under the control of Scer\GAL4elav.PU. The combined expression of TorsinScer\UAS.cWa with TorsinΔD.Scer\UAS also rescues the larval locomotion deficit, whereas simultaneous expression of TorsinScer\UAS.cWa and TorsinΔE.Scer\UAS fails to do so.

Torsin+t1.9 rescues all the phenotypes shown by TorsinKO13/Y hemizygous males.

Expression of TorsinScer\UAS.cWa using either Scer\GAL4Act5C.PU or Scer\GAL4tub.PU rescues all the phenotypes shown by TorsinKO13/Y hemizygous males.

Torsin+t1.9 rescues the locomotion defect of TorsinKO13/Y larvae.

Expression of TorsinScer\UAS.cWa using Scer\GAL4elav.PU strongly rescues the TorsinKO13/Y larval mobility defect.

Expression of TorsinScer\UAS.cWa using Scer\GAL4ple.PF significantly rescues the TorsinKO13/Y larval mobility defect.

Expression of TorsinScer\UAS.cWa using Scer\GAL4elav.PU does not rescue the TorsinKO13/Y larval mobility defect.

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Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
Reported As
Symbol Synonym
Name Synonyms
Secondary FlyBase IDs
    References (2)