Ryr1^em1Jjd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ryr1^em1Jjd
• Name: ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 1, James Dowling
• MGI ID: MGI:6437882
• Synonyms: Ryr1^TM
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^em1Jjd page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 endonuclease-mediated genome editing was used to insert a T4709M missense mutation in exon 96 of the gene. The mutation is predicted to result in an amino acid substitution at position 4709 altering threonine to methionine (c.14117 C to T). The mutation is orthologous to the human variant T4706M. Sequencing of N1 mice revealed only the c.14117 CtoT, p.T4706M was incorporated, and not the silent c.14100 C to T change. (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: 3 reference(s)