Phenotypes associated with this allele

• Allele Symbol: Ryr1^tm1.1Msnr
• Allele Name: targeted mutation 1.1, Gerhard Meissner
• Allele ID: MGI:5484746
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr1^tm1.1Msnr/Ryr1^tm1.1Msnr	129S.129P2-Ryr1^tm1.1Msnr	MGI:5484930

Genotype
MGI:5484930

hm1

• Allelic Composition: Ryr1^tm1.1Msnr/Ryr1^tm1.1Msnr
• Genetic Background: 129S.129P2-Ryr1^tm1.1Msnr

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

muscle

abnormal muscle contractility ( J:195542 )

• significant reduction in cytosolic Ca+2 transient after a single action potential

• significantly increased transient if a second pulse follows the first by 40ms

• less significant transient if delay is 80ms and normal transient at 160ms

abnormal muscle electrophysiology ( J:195542 )

• decreased efficiency of calmodulin regulation of ryanodine receptor ion channel

• channels not activated by S100A1

muscle twitch ( J:195542 )

• Tibialis anterior muscle stimulated at 100Hz results in 25% decrease in twitch specific force but no difference in maximal tetanic force

muscle tetany ( J:195542 )

• greater summation during tetany although initial response is lower