FlyBase Allele Report: Dmel\mt:CoI[T300I]

General Information

Symbol

Dmel\mt:CoI^T300I

Species

D. melanogaster

Name

FlyBase ID

FBal0295787

Feature type

allele

Associated gene

Dmel\mt:CoI

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

spontaneous

Nature of the Allele

Allele class

Mutagen

spontaneous

(Hill et al., 2014)

Progenitor genotype

Cytology

Description

Amino acid replacement: T300I.

(Hill et al., 2014)

The T300I amino acid replacement eliminates an XhoI restriction enzyme site.

(Hill et al., 2014)

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 mitochondrial metabolism disease

CEA with Xvas\XhoI^{UASp.Tag:Mito(Cs1),Tag:MYC}

(Chen et al., 2015)

model of cytochrome-c oxidase deficiency disease

CEA

(Chiang et al., 2024)

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

Phenotype Manifest In

eye photoreceptor cell | progressive, with Scer\GAL4^ey.PH, Xvas\XhoI^{UASp.Tag:Mito(Cs1),Tag:MYC}

(Chen et al., 2015)

germarium region 2b | heat sensitive

(Hill et al., 2014)

mitochondrial membrane | female | heat sensitive

(Zhang et al., 2019)

ovary | heat sensitive

(Zhang et al., 2019)

respiratory chain complex IV | decreased number | pupal stage

(Chiang et al., 2024)

Detailed Description

Statement

Reference

In mt:CoI^T300I ovaries mitochondrial membrane potential (tetramethylrhodamine staining) is significantly reduced while the morphology and size of the mitochondria appear normal at a restrictive temperature (29[o]C) when compared to controls.

(Zhang et al., 2019)

Homoplasmic mt:CoI^T300I mutant flies survive to adult stages when raised at 25[o]C, but only live to two weeks. Their motility drops quickly with age; by the age of 10 days most mt:CoI^T300I flies can hardly move. mt:CoI^T300I mutant flies die within 5 days of being shifted to 29[o]C.

Generation of homoplasmic mt:CoI^T300I mutant tissue in a heteroplasmic background through expression of Xvas\XhoI^{Scer\UAS.P\T.T:Mito-kdn,T:Hsap\MYC} has no effect on eclosion rate at 29[o]C using any of the following drivers: Scer\GAL4^ey.PH (eye discs), Scer\GAL4^repo (glia), Scer\GAL4^C805 (ring glands, larval guts and tubules), Scer\GAL4^Cg.PA (hemocytes and fat body) or Scer\GAL4^71B (imaginal discs).

Generation of homoplasmic mt:CoI^T300I mutant tissue in the nervous system in heteroplasmic flies (through expression of Xvas\XhoI^{Scer\UAS.P\T.T:Mito-kdn,T:Hsap\MYC} under the control of Scer\GAL4^insc-Mz1407) results in a 25% reduction in eclosion rate and dramatically reduced adult lifespan compared with controls.

Eyes containing homoplasmic mt:CoI^T300I mitochondria (generated through expression of Xvas\XhoI^{Scer\UAS.P\T.T:Mito-kdn,T:Hsap\MYC} under the control of Scer\GAL4^ey.PH in a heteroplasmic mt:CoI^T300I mutant background) exhibit photoreceptor degeneration This phenotype is not seen in the heteroplasmic mt:CoI^T300I mutant flies.

(Chen et al., 2015)

Homoplasmic mt:CoI^T300I mutant flies develop normally at 18[o]C, but fail to eclose from pupae at 29[o]C. When shifted to 29[o]C after eclosion at the permissive temperature, flies die within 5 days.

mt:CoI^T300I mutant mitochondria show normal respiration at 18[o]C but a significant reduction in the respiratory control ratio is seen at 29[o]C.

Ovarian mtDNA replication (EdU incorporation) appears normal in mt:CoI^T300I mutant flies raised at 18[o]C, as well as in the ovarian stem cells and post-germarial egg chambers at 29[o]C. Significantly reduced replication is seen in region 2b of mt:CoI^T300I mutant germaria at 29[o]C.

Heteroplasmic mt:CoI^T300I mutant flies (generated through transplantation of wild type germplasm into homoplasmic mt:CoI^T300I mutant flies) that contain less than 10% wild type mtDNA are viable at 29[o]C. There is no significant increase in germarium cell death in these flies, and fecundity is normal.

The recruitment of mitochondria to the fusome that is seen in region 2b of wild type germaria does not take place in mt:CoI^T300I mutant mitochondria.

(Hill et al., 2014)

Adult flies homoplasmic for mt:CoI^T300I are viable and healthy at 25[o]C, but die after four days at 29[o]C.

(Ma et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Taz^KO2/Taz^KO1, mt:CoI^T300I has lethal - all die before end of P-stage phenotype

(Chiang et al., 2024)

Taz^KO1/Taz^KO3, mt:CoI^T300I has lethal - all die before end of P-stage phenotype

(Chiang et al., 2024)

Scer\GAL4^Tub.PU, Taz^HMC03231, mt:CoI^T300I has partially lethal - majority die phenotype

(Chiang et al., 2024)

Scer\GAL4^Tub.PU, Taz^JF01564, mt:CoI^T300I has partially lethal - majority die phenotype

(Chiang et al., 2024)

mt:CoI^T300I, mt:ND2^del1 has lethal | temperature conditional phenotype

(Ma and O'Farrell, 2015)

Bsub\BglII^{UASp.Tag:Mito(Cs1)}, Scer\GAL4^nanos.PU, mt:CoI^T300I, mt:ND2^del1 has female semi-sterile | maternal effect | temperature conditional phenotype

(Ma and O'Farrell, 2015)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^ey.PH, mt:CoI^T300I has eye photoreceptor cell phenotype, suppressible | partially by Letm1^UAS.cCa, Scer\GAL4^ey.PH

(Chen et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Pink1^B9 or spoon^mdi-1 females, or females expressing larp^{4D.UASp.GFP,Tag:Mito(Tom20)} under the control of Scer\GAL4^nos.PU lay eggs that lack the counterselection ability of mitochondrial temperature sensitive (mt-ts, mt:CoI^T300I) genome in a heteroplasmic background containing both mt-ts and wild-type mitochondrial genomes at a restrictive temperature (29[o]C) different than controls.

(Zhang et al., 2019)

Co-expression of Letm1^Scer\UAS.cCa significantly suppresses the photoreceptor degeneration seen in homoplasmic mt:CoI^T300I mutant eyes (generated through expression of Xvas\XhoI^{Scer\UAS.P\T.T:Mito-kdn,T:Hsap\MYC} under the control of Scer\GAL4^ey.PH in a heteroplasmic mt:CoI^T300I mutant background). Many vacuoles are seen in both young and old photoreceptors.

(Chen et al., 2015)

mt:CoI^T300I,mt:ND2^del1 flies are temperature lethal.

(Ma and O'Farrell, 2015)

Flies heteroplasmic for mt:CoI^T300I and mt:ND2^del1 are healthy at 29[o], even when the temperature-sensitive mt:CoI^T300I mutant is in high abundance.

(Ma et al., 2014)

Xenogenetic Interactions

Statement

Reference

Ubiquitous expression of Zzzz\AOX^Scer\UAS.cCa under the control of Scer\GAL4^Act5C.PI completely restores the viability of homoplastic mt:CoI^T300I mutant flies at 29[o]C.

(Chen et al., 2015)

Heteroplasmic flies containing in addition to the wild-type mitochondrial (mt) genome also both mt:CoI^T300I and mt:ND2^del1 kept at 29[o]C (to select against the mutant genomes) and also expressing Bsub\BglII^{Scer\UAS.P\T.T:Mito-kdn} under the control of Scer\GAL4^nos.PU (to select against the wild-type mt genome) can produce viable female offspring: about 15% of the F1 females are both viable and fertile and produce progeny that show the repaired, wild-type sequence at the CoI gene while also harboring the mt:ND2 [del1] mutation.

(Ma and O'Farrell, 2015)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

81006

w^*; mt:CoI^T300I

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (7)

Reported As

Symbol Synonym

CoI^T300I

(Klucnika et al., 2023)

mt-ts

(Zhang et al., 2019)

mt:CoI^T3001

(Cagin et al., 2015)

mt:CoI^T300I

(Chiang et al., 2024, Chen et al., 2020, Chiang et al., 2019, Zhang et al., 2019, Chen et al., 2015, Ma and O'Farrell, 2015)

mt:CoI^ts

(Lieber et al., 2019)

mt:Col^T300I

(Wang et al., 2019)

mtCoI^T300I

(Ma et al., 2014)

Name Synonyms

Secondary FlyBase IDs

References (12)

Report Sections

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