FlyBase Allele Report: Dmel\Taz[Δ883]

General Information

Symbol

Dmel\Taz^Δ883

Species

D. melanogaster

Name

FlyBase ID

FBal0193558

Feature type

allele

Associated gene

Dmel\Taz

Associated Insertion(s)

Carried in Construct

Also Known As

ΔTAZ

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Xu et al., 2006)

Progenitor genotype

Taz^KG02529

(Xu et al., 2006)

Cytology

Description

Mobilisation of P{SUPor-P}tafazzin^KG02529 generates a deletion of 883 bp from the P{SUPor-P}tafazzin^KG02529 insertion site upstream of the tafazzin start codon, removing all of exon 1 and some of the first intron.

(Xu et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2R:12,755,433..12,756,315 [-]

Comment:

Inferred boundaries of a 883 bp deletion resulting from the imprecise excision of P{SUPor-P}Taz^KG02529.

(Xu et al., 2006)

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 Barth syndrome

CEA

(Damschroder et al., 2018, Xu et al., 2006)

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 flight

(Damschroder et al., 2018)

abnormal locomotor behavior

(Xu et al., 2009)

abnormal locomotor behavior | adult stage

(Damschroder et al., 2018, Xu et al., 2006)

male sterile

(Xu et al., 2009)

Phenotype Manifest In

indirect flight muscle & mitochondrion

(Xu et al., 2006)

mitochondrial crista

(Xu et al., 2006)

mitochondrion

(Acehan et al., 2011)

Detailed Description

Statement

Reference

Taz^Δ883 homozygous adults show a significantly faster decrease in climbing capacity, a significant decrease in landing height in flight assays and a significant decrease in runspan time to fatigue, but do not show significant changes in lifespan or in cardiac failure rate after pacing in 1 and 5 weeks old individuals or after exercise training, as compared to controls. After endurance training, Taz^Δ883 mutants show no significant difference in runspan time to fatigue or in landing height between exercised and unexercised individuals.

(Damschroder et al., 2018)

The respiratory activity of isolated Taz^Δ761 mitochondria is diminished in comparison to wild-type mitochondria and has profound effects on fly physiology at all developmental stages, such as reduced locomotor activity at the adult stage. This physiological decline accompanied by alterations in mitochondrial ultrastructure and by re-organization of ATP synthase complexes. Many mitochondria in flight and heart muscle show abnormal morphology and this is also observed in isolated mitochondria.

(Acehan et al., 2011)

Taz^Δ883 mutants exhibit an approximate 50% reduction of state 3 respiration in succinate-driven mitochondrial respiration.

(Xu et al., 2009)

Deletion of the full-length isoform of tafazzin, as occurs in tafazzin^Δ883 homozygous mutants causes a change in the fatty acid pattern of cardiolipin but not of phosphatidylcholine and phosphatidylethanolamine. The total amount of cardiolipin is reduced by approximately 80% and the main molecular species, dipalmitoleoyl-dilinoleoyl-cardiolipin, is virtually absent. Heterozygous tafazzin^Δ883 mutant flies exhibit a normal cardiolipin profile.

tafazzin^Δ883 mutants have the same lifespan as wild-type. The heart rate of tafazzin^Δ883 pupae and the locomotor activity of tafazzin^Δ883 larvae is normal.

Adult tafazzin^Δ883 flies exhibit moderate signs of motor weakness. Although this weakness is not severe enough to be picked up by casual observation, quantitative assays clearly demonstrate the reduced ability of adult tafazzin^Δ883 flies to climb against gravity and to fly.

Although no alteration of the myofibril structure is observed, tafazzin^Δ883 indirect flight muscles contain many structurally abnormal mitochondria. This abnormality primarily affects the internal cristae membranes, which present as hyperdense stacks that form swirls, curls, or rings, in many cases extending through almost the entire mitochondrial length. Often, these changes are associated with swelling and disruption of the cristae. Abnormal mitochondria are not homogenously distributed throughout the muscle fibers. Instead, they form clusters that coexist with zones of normal mitochondria. The overall abundance of abnormal mitochondria is >10-fold higher in tafazzin^Δ883 mutants than in wild-type.

(Xu et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Taz^Δ883 has male sterile phenotype, suppressible by Scer\GAL4^da.G32/Hsap\TAFAZZIN^fl.UAS

(Xu et al., 2009)

Taz^Δ883 has abnormal locomotor behavior phenotype, suppressible by Scer\GAL4^da.G32/Hsap\TAFAZZIN^fl.UAS

(Xu et al., 2009)

Taz^Δ883 has male sterile phenotype, suppressible by Scer\GAL4^da.G32/Hsap\TAFAZZIN^Δ5.UAS

(Xu et al., 2009)

Taz^Δ883 has abnormal locomotor behavior phenotype, suppressible by Scer\GAL4^da.G32/Hsap\TAFAZZIN^Δ5.UAS

(Xu et al., 2009)

Taz^Δ883 has abnormal locomotor behavior phenotype, suppressible by Hsap\TAFAZZIN^Δ5.Δ7.UAS/Scer\GAL4^da.G32

(Xu et al., 2009)

NOT suppressed by

Statement

Reference

Taz^Δ883 has abnormal locomotor behavior phenotype, non-suppressible by Hsap\TAFAZZIN^Δ7.UAS/Scer\GAL4^da.G32

(Xu et al., 2009)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\TAZ^fl.Scer\UAS under the control of Scer\GAL4^da.G32 restores muscle activity and male fertility in Taz^Δ883 mutants in flies expressing Hsap\TAZ^fl.Scer\UAS. In addition, state respiration in succinate-driven mitochondrial respiration is restored to wild-type levels from the 50% reduction found in Taz^Δ883 mutants in flies expressing Hsap\TAZ^fl.Scer\UAS.

Expression of Hsap\TAZ^Δ5.Scer\UAS or Hsap\TAZ^{Δ5.Δ7.Scer\UAS} under the control of Scer\GAL4^da.G32 partially restores muscle activity in Taz^Δ883 mutants, as measured by climbing assays.

Expression of Hsap\TAZ^Δ5.Scer\UAS under the control of Scer\GAL4^da.G32 completely reverses the male sterility found in Taz^Δ883 mutants. In addition, state respiration in succinate-driven mitochondrial respiration is restored to wild-type levels from the 50% reduction found in Taz^Δ883 mutants in flies expressing Hsap\TAZ^Δ5.Scer\UAS.

Expression of Hsap\TAZ^Δ7.Scer\UAS under the control of Scer\GAL4^da.G32 fails to restore muscle activity in Taz^Δ883 mutants, as measured by climbing assays.

(Xu et al., 2009)

Complementation and Rescue Data

Rescued by

Taz^Δ883 is rescued by Taz^A.UAS/Scer\GAL4^da.G32

(Xu et al., 2009)

Partially rescued by

Taz^Δ883 is partially rescued by Taz^B.UAS/Scer\GAL4^da.G32

(Xu et al., 2009)

Taz^Δ883 is partially rescued by Scer\GAL4^da.G32/Taz^C.UAS

(Xu et al., 2009)

Comments

Expression of Taz^A.Scer\UAS under the control of Scer\GAL4^da.G32 restores muscle activity and male fertility in Taz^Δ883 mutants. In addition, state respiration in succinate-driven mitochondrial respiration is restored to wild-type levels from the 50% reduction found in Taz^Δ883 mutants.

Expression of Taz^B.Scer\UAS under the control of Scer\GAL4^da.G32 partially restores muscle activity in Taz^Δ883 mutants, as measured by climbing assays.

Expression of Taz^C.Scer\UAS under the control of Scer\GAL4^da.G32 partially restores muscle activity in Taz^Δ883 mutants, as measured by climbing assays.

(Xu et al., 2009)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

TAZ-/-(883 bp)

(Xu et al., 2006)

Taz^Δ883

tafazzin^Δ883

ΔTAZ

(Xu et al., 2015, Acehan et al., 2011, Xu et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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