Rbm20^em1Eno
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em1Eno
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Eric N Olson
• MGI ID: MGI:7466295
• Synonyms: Rbm20^R636Q
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em1Eno page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an arginine to glutamine substitution at amino acid 636 (p.R636Q) in exon 9 which corresponds to the human R634Q mutation. (J:335083)

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 Rbm20 Mutation: 57 strains or lines available

References

• Original: J:335083 Nishiyama T, et al., Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy. Sci Transl Med. 2022 Nov 23;14(672):eade1633
• All: 1 reference(s)