Genes involved in mitochondrial complex deficiency diseases

There are a variety of conditions that can be caused by mitochondrial complex deficiencies, including Leigh syndrome, diabetes mellitus and deafness, neuropathies, cardiomyopathies and encephalopathies. Mutations causing mitochondrial-related disorders can be found in both nuclear- and mitochondrial-encoded genes.

General Information links for mitochondrial complex deficiency disorders:

The two tables below show genes implicated in mitochondrial-based disease (ordered by complex) and stocks available from the BDSC (in alphabetical order by gene).

Complex/functionHuman gene symbolHuman gene nameFly gene
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Stocks for studying nuclear-encoded mitochondrial genes
Relevant gene in stockFly disease model or related mutation or transgeneStk #Comments
Vps35Vps35[MH20]67202Imprecise excision of a P{EPgy2} element resulting in a partial deletion of Vps35, including the translation start site.
Vps35P{TRiP.HMS01858}attP4038944Expresses dsRNA for RNAi of Vps35 (FBgn0034708) under UAS control in the VALIUM20 vector.
Vps35TI{CRIMIC.TG4.0}Vps35[CR01629-TG4.0]91268CRISPR-based insertion of a CRIMIC cassette results in expression of GAL4 under Vps35 control.
Vps35P{TKO.GS00554}attP4076385Expresses sgRNA ubiquitously for Cas9-mediated mutagenesis of Vps35 (FBgn0034708).
Vps35TI{T-STEP.TagRFP-T}Vps35[KI]66527A T-STEP cassette was knocked into Vps35 to tag the endogenous protein with TagRFP-T. In the presence of Rippase, TagRFP-T is replaced by GFP, allowing tissue/cell specific tagging of endogenous protein with GFP.
Vps35TI{T-STEP.TagRFP-T}Vps35[D628N]66528A D628N mutation and T-STEP cassette were knocked into Vps35 to tag the endogenous protein with TagRFP-T. In the presence of Rippase, TagRFP-T is replaced by GFP, allowing tissue/cell specific tagging of the mutant protein with GFP.
Vps35PBac{UAS-Vps35.M}VK0003191645Expresses Vps35 under the control of UAS.
Vps35PBac{UAS-Vps35.HA}VK0003367152Expresses HA-tagged Vps35 under UAS control.
Vps35P{EPgy2}Vps35[EY14200]20913This P{EPgy2} is inserted 5' of the Vps35 transcription unit and is oriented in the right direction to overexpress Vps35 in the presence of GAL4.
Vps35P{TOE.GS01400}attP4079688Expresses sgRNAs ubiquitously for expression of Vps35 (FBgn0034708) by a Cas9-based transcriptional activator.
Vps35PBac{UAS-Vps35.R550W}VK0003191647Expresses Vps35 carrying amino acid change R550W (equivalent to R524W in human VPS35, a familial Parkinson disease mutation), under the control of UAS.
Vps35PBac{UAS-Vps35.L800M}VK0003191648Expresses Vps35 carrying amino acid change L800M (FlyBase notes that in rel 6.32, this is L798M) under the control of UAS. This LM change is equivalent to L774M in human VPS35, a familial Parkinson disease mutation.
Vps35PBac{UAS-Vps35.D650N}VK0003191646Expresses Vps35 carrying amino acid change D650N (equivalent to D620N in human VPS35, a familial Parkinson disease mutation), under the control of UAS.
VPS35 (human)PBac{UAS-Hsap\VPS35.M}VK0003191649Expresses human VPS35 under the control of UAS.
VPS35 (human)M{UAS-hVPS35.HA}ZH-86Fb65810Expresses human VPS35 under UAS control.
VPS35 (human)PBac{UAS-Hsap\VPS35.R524W}VK0003191651Expresses human VPS35 carrying amino acid change R524W (a familial Parkinson disease mutation) under the control of UAS.
VPS35 (human)PBac{UAS-Hsap\VPS35.L774M}VK0003191652Expresses human VPS35 carrying amino acid change L774M (a familial Parkinson disease mutation) under the control of UAS.
VPS35 (human)PBac{UAS-Hsap\VPS35.D620N}VK0003191650Expresses human VPS35 carrying amino acid change D620N (a familial Parkinson disease mutation) under the control of UAS.