In other species: domestic cat , cattle , killer whale , American mink

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 214500 (trait) , 606897 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: The mouse homologue of this disorder is the beige coat-colour mutation, which is a mutation in the gene for lysosomal trafficking regulator, Lyst. As its name suggests, this gene is involved in lysosomal functioning - lysosomes being the digestive system of the cell. Thus Chediak-Higashi syndrome is a lysosomal disorder.