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Phenotypes Associated with This Genotype
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr1tm1Slh mutation (0 available); any Ryr1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• isolated muscle sarcoplasmic reticulum vesicles have a significant reduction in Ca2+ loading at 37 degrees C and voltage dependent Ca2+ release is shifted toward more negative voltages in isolate myotubes
• the soleus muscle is more sensitive to caffeine-induced activation in an in vitro contracture test
• increasing the temperature to 41 degrees C for 15 min or less induces full body contractures with agonal breathing, rigid extremities, and arched backs
• isolated muscles display increased basal tension between 35-36 degrees C (43-44 degrees C for the diaphragm)

• during heat induced contractures serum potassium and creatine kinase levels increase by 80% and 163% respectively compared to pre-heat challenge levels suggesting rhabdomyolysis has occurred, no such increase is seen in wild-type mice after heating
• after heat challenge (increased external temperature to 41 degrees C for less than 15 min) body temperature increases to 43.4 +/- 0.8 degrees C compared to 41.1 +/- 0.3 degrees C in wild-type mice

• exposure to about 5.5 x 10-5 ml/cm3 isoflurane induces a rapid onset of malignant hyperthermic response with full body contractures and increased core temperatures
• increasing the room temperature from less than 25 degrees C to 30 degrees C increases the penetrance of the malignant hyperthermic response

Mouse Models of Human Disease
OMIM ID Ref(s)
Malignant Hyperthermia, Susceptibility to, 1; MHS1 145600 J:105738

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory