Ryr2^tm1.1Clhh
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm1.1Clhh
• Name: ryanodine receptor 2, cardiac; targeted mutation 1.1, Christopher Huang
• MGI ID: MGI:5432111
• Synonyms: RyR2^P2328S, RyR2^s
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm1.1Clhh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186379
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 45 was replaced with one in which nucleotide substitutions (CCC to TCT) result in the amino acid substitution of serine for proline at 2328 (P2328S), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. A floxed neo cassette inserted downstream of exon 45 was removed by cre mediated recombination. (J:186379)

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:186379 Goddard CA, et al., Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts. Acta Physiol (Oxf). 2008 Oct;194(2):123-40
• All: 6 reference(s)