Phenotypes associated with this allele

• Allele Symbol: Ryr1^tm1.1Itl
• Allele Name: targeted mutation 1.1, inGenious Targeting Laboratory
• Allele ID: MGI:5293352
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Ryr1^tm1.1Itl/?	B6.Cg-Ryr1^tm1.1Itl	MGI:5293355

Genotype
MGI:5293355

ot1

• Allelic Composition: Ryr1^tm1.1Itl/?
• Genetic Background: B6.Cg-Ryr1^tm1.1Itl

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

muscle

abnormal skeletal muscle morphology ( J:176731 )

• muscles exhibit increased abnormal mitochondrial compared with wild-type muscles

abnormal muscle physiology ( J:176731 )

• at 6 months, extensor digitorum longus muscles exhibit increased calcium spark frequency and increased single channel open probability under resting conditions indicating channel leakiness that is comparable to in 24 month old wild-type muscle

• at 6 months, muscle-specific force and action potential-triggered calcium transient amplitudes are reduced compared to in wild-type muscles

• however, S107 treatment improves muscle force

abnormal muscle contractility ( J:176731 )

• extensor digitorum longus muscle-specific force is reduced compared to in wild-type muscles