Phenotypes associated with this allele

• Allele Symbol: Ryr1^tm1.1Inp
• Allele Name: targeted mutation 1.1, Isaac N Pessah
• Allele ID: MGI:5314364
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr1^tm1.1Inp/Ryr1^tm1.1Inp	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5314376
ht2	Ryr1^tm1.1Inp/Ryr1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5314375

Genotype
MGI:5314376

hm1

• Allelic Composition: Ryr1^tm1.1Inp/Ryr1^tm1.1Inp
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

homeostasis/metabolism

acidemia ( J:181523 )

• under heat stress conditions

increased core body temperature ( J:181523 )

• male and female mice exhibit increased basal core body temperature compared with wild-type mice

abnormal physiological response to xenobiotic ( J:181523 )

• prior to and after halothane treatment, myofibrils exhibit increased sex-dependent (greater in male mice) resting calcium concentration compared with wild-type cells

increased susceptibility to malignant hyperthermia ( J:181523 )

• halothane-treated mice develop fulminant malignant hyperthermia and die unlike wild-type mice

• heat-stressed mice exhibit fulminant malignant hyperthermia with acidemia and skeletal muscle rigidity unlike wild-type mice

muscle

abnormal soleus morphology ( J:181523 )

• at 12 months, male mice exhibit abnormal soleus structure with redistribution of mitochondria from intermyofibrillar spaces to abnormal subsarcolemmal (internal) regions containing amorphous material, infolded sarcolemma and Z-line streaming that worsening with age compared with wild-type mice

• at 18 to 20 months, female mice exhibit Z-line streaming in the soleus muscle unlike in wild-type mice

abnormal muscle physiology ( J:181523 )

• prior to and after halothane treatment, myofibrils exhibit increased sex-dependent (greater in male mice) resting calcium concentration compared with wild-type cells

impaired muscle relaxation ( J:181523 )

• under heat stress conditions

limbs/digits/tail

abnormal soleus morphology ( J:181523 )

• at 12 months, male mice exhibit abnormal soleus structure with redistribution of mitochondria from intermyofibrillar spaces to abnormal subsarcolemmal (internal) regions containing amorphous material, infolded sarcolemma and Z-line streaming that worsening with age compared with wild-type mice

• at 18 to 20 months, female mice exhibit Z-line streaming in the soleus muscle unlike in wild-type mice

Genotype
MGI:5314375

ht2

• Allelic Composition: Ryr1^tm1.1Inp/Ryr1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

homeostasis/metabolism

increased core body temperature ( J:181523 )

• male mice exhibit increased basal core body temperature compared with wild-type mice

abnormal physiological response to xenobiotic ( J:181523 )

• prior to and after halothane treatment, myofibrils exhibit increased sex-dependent (greater in male mice) resting calcium concentration compared with wild-type cells

increased susceptibility to malignant hyperthermia ( J:181523 )

• 1 of 6 male mice treated with halothane develop fulminant malignant hyperthermia and dies unlike wild-type mice

• when bed temperature is equilibrated to 41C, all halothane-treated mice and some halothane-treated female mice develop fulminant malignant hyperthermia unlike wild-type mice

muscle

abnormal muscle physiology ( J:181523 )

• prior to and after halothane treatment, myofibrils exhibit increased sex-dependent (greater in male mice) resting calcium concentration compared with wild-type cells