ADH5 and AMED syndrome, digenic: Our mouse model of AMeDS, harbouring double mutations (Adh5−/− and Aldh2-E506K, equivalent to the human ALDH2-E504K and hereafter called Aldh2KI) recapitulates the major clinical findings of AMeDS, such as short life span, growth failure and haematopoietic abnormalities (Extended Data Fig. 7a)11.