Ryr2^tm2Hhv
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm2Hhv
• Name: ryanodine receptor 2, cardiac; targeted mutation 2, Hector H Valdivia
• MGI ID: MGI:5583980
• Synonyms: RyR2-V2475F
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm2Hhv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:212870
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A modified exon 48 containing a valine to phenylalanine (V2475F) mutation and a translationally silent Mlu-I restriction site replaced the endogenous exon. A loxP-flanked neomycin cassette was also inserted downstream of the modified exon and was subsequently removed by mating founder mice with EIIa-cre transgenic mice. (J:212870)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:212870 Loaiza R, et al., Heterogeneity of ryanodine receptor dysfunction in a mouse model of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2013 Jan 18;112(2):298-308
• All: 1 reference(s)