Phenotypes associated with this allele

• Allele Symbol: Ryr1^tm2.1Alle
• Allele Name: targeted mutation 2.1, Paul D Allen
• Allele ID: MGI:4887389
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr1^tm2.1Alle/Ryr1^tm2.1Alle	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4887394
ht2	Ryr1^tm2.1Alle/Ryr1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4887395

Genotype
MGI:4887394

hm1

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

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:168222 )

• lethality probably around E17-18

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:168222 )

• calcium response of muscle cells to caffeine at lower concentrations (increased sensitivity) relative to controls and to heterozygotes

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

Genotype
MGI:4887395

ht2

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

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