Ryr2^tm1.1Maya
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm1.1Maya
• Name: ryanodine receptor 2, cardiac; targeted mutation 1.1, Masafumi Yano
• MGI ID: MGI:4442645
• Synonyms: RyR2 R2474S
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm1.1Maya page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:159451
• 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 49 was replaced with one in which nucleotide substitutions result in the amino acid substitution of arginine with serine at position 2473 in the encoded peptide (p.R2473S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. The floxed neomycin resistance gene cassette that was inserted into intron 48 was removed by cre-mediated recombination, leaving a single loxP site. (J:159451)

Disease models

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:159451 Uchinoumi H, et al., Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor. Circ Res. 2010 Apr 30;106(8):1413-24
• All: 6 reference(s)