Mouse Genome Informatics
ht
    Ryr1tm1Slh/Ryr1+
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
muscle
• 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)

homeostasis/metabolism
• 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

behavior/neurological
• 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 IDRef(s)
Malignant Hyperthermia, Susceptibility to, 1; MHS1 145600 J:105738