Ryr1^em2Jjd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ryr1^em2Jjd
• Name: ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 2, James Dowling
• MGI ID: MGI:6437883
• Synonyms: Ryr1^Indel
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^em2Jjd page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Deletion
• Mutation details: CRISPR/Cas9 endonuclease-mediated genome editing introduced an indel comprised of a 16 bp (Chr7:29013738 to 29013752) deletion in exon 96 of the gene. Sequencing N1 pups revealed the repair template was not incorporated into this allele, which resulted from non-homologous end-joining repair of the double strand break. (J:275500)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ryr1 Mutation: 215 strains or lines available

References

• Original: J:275500 Brennan S, et al., Mouse model of severe recessive RYR1-related myopathy. Hum Mol Genet. 2019 May 20
• All: 1 reference(s)