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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ryr1tm2.1Alle
targeted mutation 2.1, Paul D Allen
MGI:4887389
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ryr1tm2.1Alle/Ryr1tm2.1Alle involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4887394
ht2
Ryr1tm2.1Alle/Ryr1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:4887395


Genotype
MGI:4887394
hm1
Allelic
Composition
Ryr1tm2.1Alle/Ryr1tm2.1Alle
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr1tm2.1Alle mutation (0 available); any Ryr1 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

homeostasis/metabolism
• 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
Ryr1tm2.1Alle/Ryr1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr1tm2.1Alle mutation (0 available); any Ryr1 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• resulting from halothane anesthesia
• rate increase from 147 to about 183 breaths per minute

homeostasis/metabolism
• 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
• drop in blood pH during anesthesia is significantly greater than for controls
• blood lactate increase is significantly greater during anesthesia than for controls
• pCO2 is significantly greater than for controls during anesthesia
• 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
• 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
• 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
OMIM ID Ref(s)
Malignant Hyperthermia, Susceptibility to, 1; MHS1 145600 J:168222





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory