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Strain Detail Sheet

Strain Name:
C57BL/6J-Rbm20em3Wguo/Mmjax
Stock Number:
071764-JAX
Citation ID:
RRID:MMRRC_071764-JAX
Other Names:
Rbm20S639G

Strain Information

Gene Details

Rbm20em3Wguo
Name: RNA binding motif protein 20; endonuclease-mediated mutation 3, Wei Guo
Synonyms: Rbm20S639G, Rbm20em1Hgra
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 an A to G change resulting in a serine to glycine substitution at amino acid 639 (p.S639G) in the RS domain. This is equivalent to the human S637G mutation seen in patients with severe dilated cardiomyopathy.
ES Cell Line
Not applicable

Strain Description

Phenotype
Mice carrying the S639G variant in RBM20 develop a DCM-like phenotype characterized by ventricular dilation, systolic dysfunction, and premature mortality. The mice also showed a reduction of diastolic stiffness and impaired contractility at both the left ventricular chamber and cardiomyocyte levels.

This phenotype arises due to mis-splicing of RBM20 target genes, including Ttn, and the formation of cytoplasmic RBM20 granules.
MeSH Terms
  • Animals
  • Cardiomyopathy, Dilated/metabolism
  • Heart Failure/genetics
  • Humans
  • Mice
  • Mortality, Premature
  • Mutation
  • RNA
  • RNA-Binding Proteins/genetics
  • RNA-Binding Proteins/metabolism
  • Risk Factors
Strain Development
The Rbm20em3Wguo mouse was generated via CRISPR/Cas9 system. The guide RNAs used for the knock-in experiments were designed with the CRISPOR web tool. The Cas9 protein with sRNA complexes and oligo were injected into C57BL/6NJ zygotes. Genetically edited mice were identified by PCR and crossed to C57BL/6J at least once.
Suggested Control Mice
C57BL/6J

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact csmmrrc@jax.org. Older strains may not have this information.

Research Applications

  • Cardiovascular

Strain Origin

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

Wang C, Zhang Y, Methawasin M, Braz CU, Gao-Hu J, Yang B, Strom J, Gohlke J, Hacker T, Khatib H, Granzier H, Guo W. RBM20S639G mutation is a high genetic risk factor for premature death through RNA-protein condensates. J Mol Cell Cardiol. 2022 Apr;165:115-129. doi: 10.1016/j.yjmcc.2022.01.004. Epub 2022 Jan 15. (Medline PMID: 35041844)

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 Reduced
Heterozygotes are fertile: Reduced Reduced
Age Reproductive Decline: 4 to 6 months 4 to 6 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
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