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). This evidence concerns the gene PSME3 and aceruloplasminemia.