OMIA:000185-494514 : Chediak-Higashi syndrome in Vulpes lagopus (Arctic fox)

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

Categories: Haematopoietic system phene

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

Links to MONDO diseases:

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000185-494514: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

2023 Perrin, K.L. :
Coagulation disorders, testing, and treatment in exotic animal critical care. Vet Clin North Am Exot Anim Pract , 2023. Pubmed reference: 37321935. DOI: 10.1016/j.cvex.2023.05.006.
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