This is the first mouse model of human SLC25A46-mediated pathologies that have recently been reported by five independent research groups with heterogeneous clinical manifestations including optic atrophy, axonal peripheral neuropathy Charcot-Marie-Tooth type 2 (CMT2) [12], an optic atrophy spectrum disorder [13], Leigh syndrome [14], progressive myoclonic ataxia with optic atrophy and neuropathy [15] and lethal congenital pontocerebellar hypoplasia [16]. The gene discussed is SLC25A46; the disease is Leber hereditary optic neuropathy.