OMIA 000621-9986 : Malignant hyperthermia in Oryctolagus cuniculus

In other species: domestic cat , cattle , dog , horse , pig , deer , turkey

Possibly relevant human trait(s) and/or gene(s) (MIM number): 145600

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: A progressive increase in body temperature, muscle rigidity and metabolic acidosis, leading to rapid death.

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.
2001 Du, G.G., Oyamada, H., Khanna, V.K., MacLennan, D.H. :
Mutations to Gly(2370), Gly(2373) or Gly(2375) in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+ -release channel (ryanodine receptor isoform 1) Biochemical Journal 360:97-105, 2001. Pubmed reference: 11695996.
1997 Ahern, G.P., Junankar, P.R., Dulhunty, A.F. :
Ryanodine receptors from rabbit skeletal muscle are reversibly activated by rapamycin Neuroscience Letters 225:81-84, 1997. Pubmed reference: 9147379.
1992 Joffe, M., Savage, N., Silove, M. :
The Biochemistry of Malignant Hyperthermia - Recent Concepts International Journal of Biochemistry 24:387-398, 1992. Pubmed reference: 1312953.

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  • Created by Frank Nicholas on 06 Sep 2005