Ryr2^tm1.1Hnis
Targeted Allele Detail

Summary

• Symbol: Ryr2^tm1.1Hnis
• Name: ryanodine receptor 2, cardiac; targeted mutation 1.1, Hajime Nishio
• MGI ID: MGI:5749278
• Synonyms: RyR2^R420W
• Gene: Ryr2 Location: Chr13:11567988-12121831 bp, - strand Genetic Position: Chr13, 4.38 cM, cytoband A1-A2
• Alliance: Ryr2^tm1.1Hnis page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228787
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: A floxed neo cassette was inserted upstream of exon 13 and exon 13 was replaced with a modified exon containing a CGG to TGG (R420W) mutation. Cre mediated recombination removed the neo cassette. (J:228787)

Expression

In Structures Affected by this Mutation:

5 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:228787 Nishio H, et al., Hypertrophy of lymphoid organs is a possible phenotypic characteristic of R420W mutation of the cardiac ryanodine receptor gene: a study using a knock-in mouse model. Leg Med (Tokyo). 2014 Nov;16(6):326-32
• All: 2 reference(s)