OMIA:000621-9986 : Malignant hyperthermia in Oryctolagus cuniculus |
In other species: domestic cat , cattle , dog , horse , pig , deer , turkey
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 145600 (trait) , 180901 (gene)
Links to MONDO diseases: No links.
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 |
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