Ryr2^tm2Amks
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm2Amks
• Name: ryanodine receptor 2, cardiac; targeted mutation 2, Andrew R Marks
• MGI ID: MGI:3802940
• Synonyms: Ryr2-R2474S
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm2Amks page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:137696
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 49 was replaced with one in which nucleotide substitutions resulted in the amino acid substitution of serine for arginine at position 2474 (R2474S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients, and a self-excising, floxed neo cassette was inserted downstream of exon 50. The neo cassette excised itself leaving a loxP site behind. (J:137696)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ryr2 Mutation: 325 strains or lines available

References

• Original: J:137696 Lehnart SE, et al., Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest. 2008 Jun;118(6):2230-45
• All: 9 reference(s)