Rbm20^em1Lsgb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em1Lsgb
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Lars M Steinmetz
• MGI ID: MGI:7718804
• Synonyms: P635L
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em1Lsgb page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an proline to leucine substitution at amino acid 635 (p.P635L). This mutation is equivalent to the P633L cardiomyopathy disease-related variant. (J:353940)

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:353940 Grosch M, et al., Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy. Nat Commun. 2023 Jun 22;14(1):3714
• All: 1 reference(s)