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Strain Detail Sheet

Strain Name:
C57BL/6J-Rbm20em2Wguo/Mmjax
Stock Number:
071763-JAX
Citation ID:
RRID:MMRRC_071763-JAX
Other Names:
Rbm20S637A

Strain Information

Gene Details

Rbm20em2Wguo
Name: RNA binding motif protein 20; endonuclease-mediated mutation 2, Wei Guo
Synonyms: Rbm20S637A, Rbm20em2Hgra
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 19
Alteration at locus: Endonuclease-mediated
Rbm20
Name: RNA binding motif protein 20
Synonyms: 2010003H22Rik, 1110018J23Rik
Type: Gene
Species: Mouse
Chromosome: 19
Alteration at locus: Endonuclease-mediated
NCBI: 73713
Homologene: 28386

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
CRISPR/Cas9 technology generated a T to G change resulting in a serine to alanine substitution at amino acid 637 (S637A) in the RS (arginine-serine) domain. This corresponds to the human S635A mutation identified in patients with dilated cardiomyopathy.
ES Cell Line
Not applicable

Strain Description

Phenotype
Mice carrying the S637A variant in RBM20 develop a DCM-like phenotype characterized by ventricular dilation, systolic dysfunction, and premature mortality. This phenotype arises due to mis-splicing of RBM20 target genes, including Ttn, and the formation of cytoplasmic RBM20 granules. Western blot analysis shows that phosphorylation at this site is dramatically reduced in heterozygotes and almost undetectable in homozygous mice and also that protein level is elevated in both heterozygotes and homozygotes compared to levels in wild-type mice.
MeSH Terms
  • Active Transport, Cell Nucleus
  • Animals
  • Mice
  • Myocytes, Cardiac/metabolism
  • Phosphorylation
  • RNA Splicing
  • RNA-Binding Motifs
  • RNA-Binding Proteins/genetics
  • RNA-Binding Proteins/metabolism
  • Rats
Strain GQC Summary
The MMRRC Centers have developed a Strain GQC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC strains. For more information on whether data may be available, or to request genotyping for a strain of interest, please contact MMRRC_GeneticQC@med.unc.edu. Older strains may not have this information available.
Suggested Control Mice
Littermates of all relevant genotypes.

Research Applications

  • Cardiovascular

Strain Origin

Donor
Wei Guo, Ph.D., University of Wisconsin-Madison.
Primary Reference

Zhang Y, Wang C, Sun M, Jin Y, Braz CU, Khatib H, Hacker TA, Liss M, Gotthardt M, Granzier H, Ge Y, Guo W. RBM20 phosphorylation and its role in nucleocytoplasmic transport and cardiac pathogenesis. FASEB J. 2022 May;36(5):e22302. doi: 10.1096/fj.202101811RR. (Medline PMID: 35394688)

Strain Development
The Rbm20em2Wguo mouse was generated via CRISPR/Cas9 system. Guide RNAs for the knock-in experiment were designed using the CRISPOR web tool. The genetically edited C57BL/6J mice were identified by PCR genotyping and Sanger sequencing.


Disclaimer: If MMRRC Strain Genetic Quality Control (GQC; based on MiniMUGA genotyping and analysis) has been completed for this strain, the information might differ from the genetic background information provided by the submitter. MiniMUGA genetic analysis is done on a strain’s tissue samples taken when archived by or ordered from the assigned MMRRC Center.

Colony and Husbandry Information

Special Considerations

N/A

Health Status Report

For more information about this colony's health status contact csmmrrc@jax.org

Appearance

Coat Color
Black
Eye
Black

Breeding

MMRRC Breeding System
Sib-mating
Generation
1
Overall Breeding Performance
Poor

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Reduced Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: 4 to 6 months 7 to 9 months
Average litter size
Variable
Recommended wean age
3 Weeks
Average Pups Weaned
Variable

Order Request Information

Availability Level

The availability level for this product has not been determined.

Conditions of Distribution

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

- Products for this strain are Not Yet Available for Ordering
- If you register interest in this strain, you will be notified when it becomes available for ordering.
To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.