Symbol: Rbm20em1Hide
MGI ID: MGI:6437154
Allele Type: Endonuclease-mediated (Modified isoform(s))
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). RT-PCR indicates the absence of the N2B isoform and expression of a giant N2BA isoform (N2BA-G) which includes exons 215-218, in homozygous hearts. The N2BA-type splicing predominates in the heterozygote but not the giant N2BA isoform. This mutation is equivalent to the S635A mutation reported in a sporadic case of dilated cardiomyopathy.