Ryr2^tm3.1Swch
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm3.1Swch
• Name: ryanodine receptor 2, cardiac; targeted mutation 3.1, S R Wayne Chen
• MGI ID: MGI:5606046
• Synonyms: Ex3-del^-
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm3.1Swch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:215190
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutation: Insertion
• Mutation details: A targeting vector was designed to replace exon 3 with a deletion of the 105 bp exon 3 sequence and the intron sequences (15 bp on both sides) that flank exon 3 and a FRT flanked neomycin cassette. The neomycin cassette was removed via Flp-mediated recombination. Western blot analysis of heterozygotes indicates that protein level in hearts is reduced to 58% of wild-type hearts, indicating impaired expression of this allele. (J:215190)

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:215190 Liu Y, et al., Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor. PLoS One. 2014;9(4):e95615
• All: 2 reference(s)