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| mouse homozygous for a Opa1 gene splice site mutation (c.1065 + 5G>A) die in utero during embryogenesis with first notable developmental delay at E8.5 while heterozygous mice are viable but exhibit an age-dependent loss of retinal ganglion cells progressesing to a severe degeneration of the ganglion cell and nerve fibre layer whose axones display an abnormal shape, disorganized mitochondrial cristae structures  | |
ENU-induced mutant mouse carrying a protein-truncating nonsense mutation in opa1 display 50% reduction in opa1 protein in retina and all tissues on western analysis, alteration in morphology, with an increase in mitochondrial fission and fragmentation, a slow onset of degeneration in the optic nerve and a functional reduction in visual function |
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Mouse Opa1 homozygous mutation is embryonic lethal by 13.5 days post coitum |
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Heterozygous mutation of dOpa1 by a P-element or transposon insertions causes no discernable eye phenotype in Drosophila while homozygous mutation results in embryonic lethality |
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somatic homozygous mutation of dOpa1 in the Drosophila eyes caused rough (mispatterning) due to the loss of hexagonal lattice cells in developing eyes, and glossy (decreased lens and pigment deposition) eye phenotypes in adult flies |
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in adult flies, the dOpa1 mutation caused an increase in reactive oxygen species production as well as mitochondrial fragmentation associated with loss and damage of the cone and pigment cells |
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heterozygous dOpa1 mutation caused shortened lifespan, increased susceptibility to oxidative stress and elevated production of ROS in the whole Drosophila |
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homozygous mutant drosophila for OPA1 developed a rough and glossy eye phenotype due to the loss of hexagonal lattice cells, with decreased lens and pigment deposition |
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heterozygous B6;C3-Opa1(Q285STOP) mice display retinal ganglion cell dendropathy |
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Opa1(+/-) mutant mice (B6;C3-Opa1) have a marked reduction in retinal ganglion cell synaptic, decreased levels of postsynaptic density protein 95 and glutamatergic synaptic sites, increased synaptic vesicle number in bipolar cell terminal, retraction of mitochondria towards the soma of retinal ganglion cells and mitochondrial fragmentation, preceding dendritic loss |
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OPA1 knockdown retinal ganglion cells results in profound cristae depletion and loss of crista junctions, and defective Ca(2+) homeostasis |
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Opa1 mouse model carrying the recurrent Opa1(delTTAG) mutation displays a multi-systemic poly-degenerative phenotype: visual failure, deafness, encephalomyopathy, peripheral neuropathy, ataxia and cardiomyopathy, premature age-related axonal and myelin degenerations, increased autophagy and mitophagy and mitochondrial supercomplex instability preceding degeneration and cell death |
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downregulation of the OPA1 protein in rodent cortical primary neurons leads to fragmented mitochondria that become less abundant along the dendrites, reduced expression of mitochondrial respiratory complexe, reduction of mitochondrial DNA, decreased mitochondrial membrane potential, diminished reactive oxygen species levels, and a major restriction of dendritic growth, together with reduction of synaptic proteins |
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depletion of Opa1 in zebrafish embryos leads to mitochondrial morphology disruption, abnormal blood circulation and heart defects, small eyes, small pectoral fin buds and impairment of locomotor activity |
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Ablation of OPA1 in HeLa cells and 143b cells specifically abrogated pH flashes and reduced the propagation of matrix photoactivated GFP |