While homozygous p.Arg192Gln (RQ/RQ) and heterozygous p.Ser218Leu (SL/WT) mice did not exhibit an overt phenotype, homozygous p.Ser218Leu (SL/SL) KI model exhibited the main features of the severe p.Ser218Leu clinical syndrome, including mild permanent cerebellar ataxia (van den Maagdenberg et al. 2004, 2010). The gene discussed is PSME3; the disease is cerebellar ataxia.