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Rbm20em1Hide
Endonuclease-mediated Allele Detail
Summary
Symbol: Rbm20em1Hide
Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Hidehito Kuroyanagi
MGI ID: MGI:6437154
Synonyms: S637A
Gene: Rbm20  Location: Chr19:53665737-53855511 bp, + strand  Genetic Position: Chr19, 48.28 cM
Alliance: Rbm20em1Hide page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/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 (J:263135)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
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:  54 strains or lines available
References
Original:  J:263135 Murayama R, et al., Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization. Sci Rep. 2018 Jun 12;8(1):8970
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory