Ryr2^tm1Hhv
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm1Hhv
• Name: ryanodine receptor 2, cardiac; targeted mutation 1, Hector H Valdivia
• MGI ID: MGI:3818448
• Synonyms: RyR2-S2808A
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm1Hhv page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:141342
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Intragenic deletion, Nucleotide substitutions
• Mutation details: Phosphorylation of the serine amino acid at 2808 modifies the activity of this gene product. A modified exon 55 containing a serine to alanine (S2808A) 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. Mutant protein expression was confirmed in homozygote cardiomycotes by detection of protein with an Ryr2-specific antibody and a lack of signal with the phospho-specific RyR2-pS2808 antibody. (J:141342)

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:141342 Benkusky NA, et al., Intact beta-adrenergic response and unmodified progression toward heart failure in mice with genetic ablation of a major protein kinase A phosphorylation site in the cardiac ryanodine receptor. Circ Res. 2007 Oct 12;101(8):819-29
• All: 5 reference(s)