OTC and ornithine carbamoyltransferase deficiency: The spfash mouse model carries the mutation c.386G>A; p.R129H (NP_000522) at the last position of OTC (NG_008471) exon 4 that has been also found in several patients with OTC deficiency (OTCD) (Tuchman et al. 2002; Yamaguchi et al. 2006; Rivera-Barahona et al. 2015).