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Allele : Rbm20<em1Lsgb> RNA binding motif protein 20; endonuclease-mediated mutation 1, Lars M Steinmetz

Primary Identifier	MGI:7718804	Allele Type	Endonuclease-mediated
Attribute String	Humanized sequence	Gene	Rbm20
Strain of Origin	(C57BL/6 x C3H)F1	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology generated an proline to leucine substitution at amino acid 635 (p.P635L). This mutation is equivalent to the P633L cardiomyopathy disease-related variant.

mutations:
Single point mutation

synonyms:
P635L,
P635L

earliestPublication:
Grosch M, et al. (2023) Striated muscle-specific base editing enables correction of mutations causing dilated cardiomyopathy. Nat Commun 14(1):3714

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

2 Publication categories

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