Rbm20^em1Hgra
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em1Hgra
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Henk Granzier
• MGI ID: MGI:7266849
• Synonyms: Rbm20^S639G
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em1Hgra page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to G change resulting in a serine to glycine substitution at amino acid 639 (p.S639G) in the RS domain. This is equivalent to the human S637G mutation seen in patients with severe dilated cardiomyopathy. (J:324088)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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:324088 Wang C, et al., RBM20(S639G) mutation is a high genetic risk factor for premature death through RNA-protein condensates. J Mol Cell Cardiol. 2022 Jan 15;165:115-129
• All: 1 reference(s)