| Primary Identifier | MGI:6437154 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Rbm20 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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 |
