Rbm20^em2Wguo

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Species

Mus musculus

Symbol

Rbm20^em2Wguo

Category

allele

Allele of gene

Rbm20

Transgenic Constructs

None

Synonyms

• Rbm20^em2Hgra
• Rbm20^S637A

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations