Ryr1^em1Anu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ryr1^em1Anu
• Name: ryanodine receptor 1, skeletal muscle; endonuclease-mediated mutation 1, Australian National University
• MGI ID: MGI:7574384
• Synonyms: RyR1-P3
• Gene: Ryr1 Location: Chr7:28702765-28824599 bp, - strand Genetic Position: Chr7, 16.94 cM, cytoband A2-B3
• Alliance: Ryr1^em1Anu page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 genome editing is used to insert a P3528S (proline to serine; C to T) substitution. The mutation corresponds to the human P3527S mutation. (J:344242)

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:344242 Thekkedam CG, et al., The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating. Int J Mol Sci. 2023 Dec 28;25(1)
• All: 1 reference(s)