Ryr2^tm1Sgp
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm1Sgp
• Name: ryanodine receptor 2, cardiac; targeted mutation 1, Silvia G Priori
• MGI ID: MGI:3641338
• Synonyms: Ryr2^R4496C
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm1Sgp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:109683
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting vector was used to introduce an R4496C mutation into exon 94 of the locus. The mutation is the mouse equivalent to the R4497C mutations identified in CPVT families. LoxP sites were inserted to flank the exon. (J:109683)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Ryr2 Mutation: 325 strains or lines available

Notes

ES cell line = TVB2.

References

• Original: J:109683 Cerrone M, et al., Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. Circ Res. 2005 May 27;96(10):e77-82
• All: 17 reference(s)