OMIA 000185-494514 : Chediak-Higashi syndrome in Vulpes lagopus

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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 214500

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.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1990 Sjaastad, O.V., Blom, A.K., Stormorken, H., Nes, N. :
Adenine Nucleotides, Serotonin, and Aggregation Properties of Platelets of Blue Foxes (Alopex-Lagopus) with the Chediak- Higashi Syndrome American Journal of Medical Genetics 35:373-378, 1990. Pubmed reference: 2309785. DOI: 10.1002/ajmg.1320350312.
1987 Fagerland, J.A., Hagemoser, W.A., Ireland, W.P. :
Ultrastructure and stereology of leukocytes and platelets of normal foxes and a fox with a Chediak-Higashi-like syndrome. Vet Pathol 24:164-9, 1987. Pubmed reference: 3576911.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 14 Oct 2011