Ryr2^tm2.1Maya
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm2.1Maya
• Name: ryanodine receptor 2, cardiac; targeted mutation 2.1, Masafumi Yano
• MGI ID: MGI:5432932
• Synonyms: RyR2^S2246L
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm2.1Maya page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186291
• Parent Cell Line: CMTI-2 (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 43 was replaced with one in which nucleotide substitutions result in the amino acid substitution of serine with leucine at position 2245 in the encoded peptide (p.S2245L), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia patients. The floxed neomycin resistance gene cassette that was inserted into intron 43 was removed by cre-mediated recombination. (J:186291)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 325 strains or lines available

References

• Original: J:186291 Suetomi T, et al., Mutation-linked defective interdomain interactions within ryanodine receptor cause aberrant Ca(2)(+)release leading to catecholaminergic polymorphic ventricular tachycardia. Circulation. 2011 Aug 9;124(6):682-94
• All: 1 reference(s)