Ryr2^tm3.1Maya
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm3.1Maya
• Name: ryanodine receptor 2, cardiac; targeted mutation 3.1, Masafumi Yano
• MGI ID: MGI:6782402
• Synonyms: V3599K-KI
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm3.1Maya page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:308964
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: A mutation was engineered in exon 76 to change valine codon 3598 to a lysine codon (p.V3598K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 76. The neo cassette was removed through subsequent cre-mediated recombination. The mutation in the calmodulin (CaM) binding domain significantly increases binding affinity of the encoded peptide to calmodulin. (J:308964)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ryr2 Mutation: 330 strains or lines available

References

• Original: J:308964 Nakamura Y, et al., Ryanodine receptor-bound calmodulin is essential to protect against catecholaminergic polymorphic ventricular tachycardia. JCI Insight. 2019 Jun 6;4(11)
• All: 1 reference(s)