Rbm20em1Hide
Endonuclease-mediated Allele Detail
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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
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Alliance: |
Rbm20em1Hide page
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Allele Type: |
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Endonuclease-mediated (Humanized sequence) |
Mutation: |
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Single point mutation
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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). 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Rbm20 Mutation: |
54 strains or lines available
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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) |
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