Rbm20^em1Hide
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em1Hide
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Hidehito Kuroyanagi
• MGI ID: MGI:6437154
• Synonyms: S637A
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em1Hide page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to G nucleotide change resulting in a serine to alanine substitution at amino acid 637 (p.S637A). This mutation is equivalent to the S635A mutation reported in a familial case of dilated cardiomyopathy. RT-PCR indicates the absence of the N2B isoform of titin and expression of a giant N2BA isoform (N2BA-G) which includes exons 215-218, in homozygous hearts indicating that isoform switching of titin regulated by RBM20 is affected. by RBM20 (J:263135)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(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: 51 strains or lines available

References

• Original: J:263135 Murayama R, et al., Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. Sci Rep. 2018 Jun 12;8(1):8970
• All: 2 reference(s)