Rbm20^em2Hgra
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em2Hgra
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 2, Henk Granzier
• MGI ID: MGI:7276163
• Synonyms: Rbm20^S637A
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em2Hgra 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 change resulting in a serine to alanine substitution at amino acid 637 (S637A) in the RS (arginine-serine) domain. Western blot analysis shows that phosphorylation at this site is dramatically reduced in heterozygotes and almost undetectable in homozygous mice and also that protein level is elevated in both heterozygotes and homozygotes compared to levels in wild-type mice. This corresponds to the human S635A mutation identified in patients with dilated cardiomyopathy. (J:324125)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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:324125 Zhang Y, et al., RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis. FASEB J. 2022 May;36(5):e22302
• All: 1 reference(s)