OMIA:000621-9986 : Malignant hyperthermia in Oryctolagus cuniculus (rabbit)

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

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 145600 (trait) , 180901 (gene)

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RYR1 ryanodine receptor 1 (skeletal) Oryctolagus cuniculus 5 NC_067378.1 (2492005..2599232) RYR1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000621-9986: 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.

2022 Iyer, K.A., Hu, Y., Klose, T., Murayama, T., Samsó, M. :
Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM. Proc Natl Acad Sci U S A 119:e2122140119, 2022. Pubmed reference: 35867837. DOI: 10.1073/pnas.2122140119.
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.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 13 Jan 2023