FlyBase Allele Report: Dmel\Torsin[KO13]

General Information

Symbol

Dmel\Torsin^KO13

Species

D. melanogaster

Name

FlyBase ID

FBal0264561

Feature type

allele

Associated gene

Dmel\Torsin

Associated Insertion(s)

TI{TI}Torsin^KO13

Carried in Construct

Also Known As

dtorsin^KO13

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

ends-out gene targeting

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Wakabayashi-Ito et al., 2011)

Mutagen

ends-out gene targeting

(Wakabayashi-Ito et al., 2011)

Progenitor genotype

Associated Insertion(s)

TI{TI}Torsin^KO13

Cytology

Description

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.

(Wakabayashi-Ito et al., 2011)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

X:4,648,703..4,649,765 [-]

Comment:

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

(Wakabayashi-Ito et al., 2011)

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 dystonia

CEA

(Wakabayashi-Ito et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of dystonia

is ameliorated by Hsap\TOR1A^UAS.cWa

(Wakabayashi-Ito et al., 2015)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal body color

(Wakabayashi-Ito et al., 2011)

abnormal locomotor behavior | adult stage

(Wakabayashi-Ito et al., 2015, Wakabayashi-Ito et al., 2011)

abnormal locomotor behavior | third instar larval stage

(Wakabayashi-Ito et al., 2015, Wakabayashi-Ito et al., 2011)

abnormal neuroanatomy | third instar larval stage

(Wakabayashi-Ito et al., 2011)

male sterile

(Wakabayashi-Ito et al., 2011)

partially lethal - majority die

(Wakabayashi-Ito et al., 2011)

Phenotype Manifest In

chaeta

(Wakabayashi-Ito et al., 2011)

dopaminergic neuron | third instar larval stage

(Wakabayashi-Ito et al., 2011)

Detailed Description

Statement

Reference

Torsin^KO13 hemizygous males display deficit in larval (decreased peristaltic rate) as well as adult locomotion.

(Wakabayashi-Ito et al., 2015)

Only a few Torsin^KO13/Y adult males survive. These are sterile, have a pale body colour, have short and thin bristles, and move slowly.

Most Torsin^KO13/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 Torsin^KO13 larvae, about 10% of these develop to the adult stage. In mixed cultures, very few Torsin^KO13/Y males develop to the adult stage.

Torsin^KO13/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 Torsin^KO13/Y larvae and results in relatively straight crawling patterns. The reduced cuticular pigmentation phenotype of surviving Torsin^KO13/Y adults is also partially rescued by dopamine supplementation.

Dopamine levels are significantly reduced in larval brains and adult heads of Torsin^KO13/+ adult females compared to wild type. The levels of the dopamine metabolite DOPAC are also decreased in Torsin^KO13/+ adult female heads, though not proportional to the reduction in dopamine levels.

The number of dopaminergic, ple-positive cell bodies in Torsin^KO13/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.

(Wakabayashi-Ito et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Torsin^KO13 has partially lethal - majority die phenotype, enhanceable by Pu[+]/Pu^Z22

(Wakabayashi-Ito et al., 2011)

Suppressed by

Statement

Reference

Torsin^KO13 has abnormal locomotor behavior | third instar larval stage phenotype, suppressible by Scer\GAL4^elav.PU/Hsap\TOR1A^UAS.cWa

(Wakabayashi-Ito et al., 2015, Wakabayashi-Ito et al., 2011)

Torsin^KO13 has abnormal locomotor behavior | adult stage phenotype, suppressible by Scer\GAL4^elav.PU/Hsap\TOR1A^UAS.cWa

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 has abnormal body color phenotype, suppressible | partially by Scer\GAL4^Act5C.PU/Hsap\TOR1A^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 has abnormal body color phenotype, suppressible | partially by Hsap\TOR1A^UAS.cWa/Scer\GAL4^Tub.PU

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 has abnormal locomotor behavior phenotype, suppressible | partially by Scer\GAL4^Act5C.PU/Hsap\TOR1A^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 has abnormal locomotor behavior phenotype, suppressible | partially by Hsap\TOR1A^UAS.cWa/Scer\GAL4^Tub.PU

(Wakabayashi-Ito et al., 2011)

NOT suppressed by

Statement

Reference

Torsin^KO13 has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by Scer\GAL4^elav.PU/Hsap\TOR1A^ΔE.UAS.cWa

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 has abnormal locomotor behavior | third instar larval stage phenotype, non-suppressible by Scer\GAL4^elav.PU/Hsap\TOR1A^UAS.cWa/Hsap\TOR1A^ΔE.UAS.cWa

(Wakabayashi-Ito et al., 2015)

Other

Statement

Reference

Pu[+]/Pu^Z22, Torsin^KO13 has abnormal locomotor behavior | third instar larval stage phenotype

(Wakabayashi-Ito et al., 2011)

Torsin^KO13, ple²/ple[+] has abnormal locomotor behavior | third instar larval stage phenotype

(Wakabayashi-Ito et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

Torsin^KO13 has chaeta phenotype, suppressible | partially by Scer\GAL4^Act5C.PU/Hsap\TOR1A^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 has chaeta phenotype, suppressible | partially by Hsap\TOR1A^UAS.cWa/Scer\GAL4^Tub.PU

(Wakabayashi-Ito et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Double heterozygous Torsin^KO13/+; Pu^Z22/+ female larvae show very significantly reduced peristaltic frequency relative to either single heterozygote.

While Torsin^KO13/Y third instar larvae are mostly viable, very few Torsin^KO13/Y ; Pu^Z22/+ third instar larvae are observed.

Double heterozygous Torsin^KO13/+; ple²/+ female larvae show a slight but significant reduction in peristaltic frequency relative to either single heterozygote.

Double heterozygous Torsin^KO13/+; DAT^fmn/+ female larvae show a similar peristaltic frequency as either single heterozygote, and the DAT^fmnallele has no effect on the mobility of Torsin^KO13/Y males.

(Wakabayashi-Ito et al., 2011)

Xenogenetic Interactions

Statement

Reference

The deficit in larval (decreased peristaltic rate) as well as adult locomotion characteristic for Torsin^KO13/Y hemizygotes can be rescued by expression of Hsap\TOR1A^Scer\UAS.cWa, but not by expression of either Hsap\TOR1A^{ΔE.Scer\UAS.cWa} alone or by combined expression of Hsap\TOR1A^Scer\UAS.cWa and Hsap\TOR1A^{ΔE.Scer\UAS.cWa}) under the control of Scer\GAL4^elav.PU in the mutant background.

(Wakabayashi-Ito et al., 2015)

Expression of Hsap\TOR1A^Scer\UAS.cWa using Scer\GAL4^Act5C.PU or Scer\GAL4^tub.PU rescues the pigmentation, bristle and mobility defects of Torsin^KO13/Y animals at very low frequency.

Expression of Hsap\TOR1A^Scer\UAS.cWa using Scer\GAL4^elav.PU results in a very significant rescue of the Torsin^KO13/Y larval mobility defect.

(Wakabayashi-Ito et al., 2011)

Complementation and Rescue Data

Rescued by

Torsin^KO13 is rescued by Scer\GAL4^elav.PU/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 is rescued by Scer\GAL4^elav.PU/Torsin^ΔD.UAS/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 is rescued by Scer\GAL4^elav.PU/Torsin^ΔD.UAS

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 is rescued by Torsin^+t1.9

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 is rescued by Scer\GAL4^Act5C.PU/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 is rescued by Scer\GAL4^Tub.PU/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 is rescued by Scer\GAL4^elav.PU/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Torsin^KO13 is rescued by Scer\GAL4^ple.PF/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Not rescued by

Torsin^KO13 is not rescued by Scer\GAL4^elav.PU/Torsin^UAS.cWa/Torsin^ΔE.UAS

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 is not rescued by Scer\GAL4^elav.PU/Torsin^ΔE.UAS

(Wakabayashi-Ito et al., 2015)

Torsin^KO13 is not rescued by Scer\GAL4^Mhc.PW/Torsin^UAS.cWa

(Wakabayashi-Ito et al., 2011)

Comments

The deficit in larval locomotion (decreased peristaltic rate) characteristic for Torsin^KO13 hemizygous male third instar larvae can be rescued by expression of either Torsin^Scer\UAS.cWa (the rescuing effect is not enhanced further when two copies of the same transgene are used) or Torsin^ΔD.Scer\UAS but not Torsin^ΔE.Scer\UAS under the control of Scer\GAL4^elav.PU. The combined expression of Torsin^Scer\UAS.cWa with Torsin^ΔD.Scer\UAS also rescues the larval locomotion deficit, whereas simultaneous expression of Torsin^Scer\UAS.cWa and Torsin^ΔE.Scer\UAS fails to do so.

(Wakabayashi-Ito et al., 2015)

Torsin^+t1.9 rescues all the phenotypes shown by Torsin^KO13/Y hemizygous males.

Expression of Torsin^Scer\UAS.cWa using either Scer\GAL4^Act5C.PU or Scer\GAL4^tub.PU rescues all the phenotypes shown by Torsin^KO13/Y hemizygous males.

Torsin^+t1.9 rescues the locomotion defect of Torsin^KO13/Y larvae.

Expression of Torsin^Scer\UAS.cWa using Scer\GAL4^elav.PU strongly rescues the Torsin^KO13/Y larval mobility defect.

Expression of Torsin^Scer\UAS.cWa using Scer\GAL4^ple.PF significantly rescues the Torsin^KO13/Y larval mobility defect.

Expression of Torsin^Scer\UAS.cWa using Scer\GAL4^elav.PU does not rescue the Torsin^KO13/Y larval mobility defect.

(Wakabayashi-Ito et al., 2011)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

602189

y¹ w^* TI{TI}Torsin^KO13/FM7c

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Torsin^KO13

dtorsin(KO13)

(Wakabayashi-Ito et al., 2011)

dtorsin^KO13

(Wakabayashi-Ito et al., 2015, Wakabayashi-Ito et al., 2011)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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