Phenotypes Associated with This Genotype

Genotype
MGI:4887395

• Allelic Composition: Ryr1^tm2.1Alle/Ryr1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

respiratory system

increased pulmonary respiratory rate ( J:168222 )

• resulting from halothane anesthesia

• rate increase from 147 to about 183 breaths per minute

homeostasis/metabolism

increased susceptibility to malignant hyperthermia ( J:168222 )

• hyperthermia followed by death during "recovery" period after halothane anesthesia

• pretreatment with muscle relaxants (dantrolene) eliminates symptoms of malignant hyperthermia during and following halothane exposure

• response to 42C exposure is similar to response to halothane

acidemia ( J:168222 )

• drop in blood pH during anesthesia is significantly greater than for controls

• blood lactate increase is significantly greater during anesthesia than for controls

hypercapnia ( J:168222 )

• pCO2 is significantly greater than for controls during anesthesia

abnormal calcium ion homeostasis ( J:168222 )

• calcium response of muscle cells to caffeine at lower caffeine concentrations (increased sensitivity)

• resting calcium ion concentration in myotubes is significantly higher than in controls

increased susceptibility to xenobiotic induced morbidity/mortality ( J:168222 )

• do not tolerate orbital blood collection well

• 50 % mortality during blood collection under halothane anesthesia

• hyperacute rigor mortis within 0.34 minutes of death, full body contracture

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:168222 )

• do not tolerate orbital blood collection well

• 50 % mortality during blood collection under halothane anesthesia

• hyperacute rigor mortis within 0.34 minutes of death, full body contracture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malignant hyperthermia		DOID:8545	OMIM:PS145600	J:168222