Rbm20^em1Hnis
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em1Hnis
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Hajime Nishio
• MGI ID: MGI:7469911
• Synonyms: Rbm20^I538T
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em1Hnis page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to C change at position 1613 (c.T1613C) resulting in an isoleucine to threonine substitution at amino acid 536 (p.I538T). This corresponds to the human c.T1607C (p.I536T) variant that was identified in two patients with sudden death without apparent dilated cardiomyopathy. (J:335127)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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:335127 Yamamoto T, et al., I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy. J Mol Med (Berl). 2022 Dec;100(12):1741-1754
• All: 1 reference(s)