Ryr2^tm3.1Amks
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm3.1Amks
• Name: ryanodine receptor 2, cardiac; targeted mutation 3.1, Andrew R Marks
• MGI ID: MGI:5582510
• Synonyms: RyR2-N2386I
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm3.1Amks page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:212640
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 47 was replaced with a self-excising neomycin resistance cassette and a modified exon 47 in which nucleotide substitution(s) results(s) in the amino acid susbtitution of isoleucine for asparagine at position 2386 (N2386I), mimicking a mutation found in some catecholaminergic polymorphic ventricular tachycardia (CPVT) patients. This mutation results in a leaky channel. The final allele lacks the selection cassette. (J:212640)

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:212640 Shan J, et al., Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2012 Aug 31;111(6):708-17
• All: 1 reference(s)