Phenotypes Associated with This Genotype

Genotype
MGI:6515830

• Allelic Composition: Ryr1^tm3.1Alle/Ryr1⁺
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:303297 )

• exposure to increased environmental temperature triggers fulminant heat stroke resulting in death, with a mean time to death of 68.6 minutes

homeostasis/metabolism

abnormal body temperature homeostasis ( J:303297 )

• exposure to increased environmental temperature triggers fulminant heat stroke resulting in death, with a mean time to death of 68.6 minutes and maximum temperature reached at 41.8 degrees C

increased physiological sensitivity to xenobiotic ( J:303297 )

• mice exposed to halothane exhibit a 1.8-fold and 1.4-fold elevation of intracellular calcium and sodium, respectively in vastus lateralis muscle

• mice exposed to isoflurane exhibit a 2-fold and 1.7-fold elevation of intracellular calcium and sodium, respectively in vastus lateralis muscle

• myotubes in vitro show increased sensitivity to halothane

increased susceptibility to malignant hyperthermia ( J:303297 )

• mice exhibit increased sensitivity to halothane, with a mean time to death of 65.2 minutes and their mean maximum temperature of 42.5 degrees C compared to 100% survival of wild-type mice with a mean ending temperature at 70 min of 37 degrees C

muscle

abnormal muscle physiology ( J:303297 )

• the normalized half-maximal effective concentration for intracellular calcium release in myotubes in response to KCl and caffeine are decreased

• in vivo quiescent muscle fibers of the vastus lateralis show increased intracellular calcium and sodium concentrations

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant hyperthermia		DOID:8545	OMIM:PS145600	J:303297