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)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.
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