C57BL/6NCya-Rbm20em1flox/Cya
Common Name:
Rbm20-flox
Product ID:
S-CKO-15753
Background:
C57BL/6NCya
Product Type
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Basic Information
Strain Name
Rbm20-flox
Strain ID
CKOCMP-73713-Rbm20-B6N-VA
Gene Name
Product ID
S-CKO-15753
Gene Alias
1110018J23Rik; 2010003H22Rik
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
19
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Rbm20em1flox/Cya mice (Catalog S-CKO-15753) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000164202
NCBI RefSeq
NM_001170847
Target Region
Exon 2
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Rbm20, the RNA-binding motif protein 20, is a vertebrate-and muscle-specific RNA-binding protein belonging to the serine-arginine-rich family of splicing factors [2]. It is crucial for heart-specific alternative splicing, with one of its major targets being the TTN gene. The alternative splicing of TTN pre-mRNA by Rbm20 is vital for the passive stiffness and diastolic function of the heart as TTN encodes titin, a key sarcomeric structural protein for passive tension in cardiomyocytes [3].
Mutations in Rbm20 are a common cause of familial dilated cardiomyopathy (DCM) [1]. Many pathogenic variants cluster within an arginine/serine-rich (RS-rich) domain which mediates nuclear localization. These mutations lead to Rbm20 mis-localization to form aberrant ribonucleoprotein (RNP) granules in the cytoplasm of cardiomyocytes and abnormal alternative splicing of cardiac genes [1]. Rbm20 knockout rodents have implicated disrupted splicing of Rbm20 target genes as a causative mechanism for DCM [2]. In Rbm20R636Q mutant mice, homozygous mice develop severe cardiac dysfunction, heart failure, and premature death, while systemic delivery of adenine base editing components can restore cardiac function and extend lifespan [1].
In conclusion, Rbm20 is essential for heart-specific alternative splicing, especially of the TTN gene, influencing myocardial passive stiffness and diastolic function. Studies using Rbm20-related genetic mouse models, such as knockouts and mutant mice, have revealed its significant role in the development of DCM, providing insights into potential therapeutic strategies for this disease.
References:
1. Nishiyama, Takahiko, Zhang, Yu, Cui, Miao, Bassel-Duby, Rhonda, Olson, Eric N. 2022. Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy. In Science translational medicine, 14, eade1633. doi:10.1126/scitranslmed.ade1633. https://pubmed.ncbi.nlm.nih.gov/36417486/
2. Gregorich, Zachery R, Zhang, Yanghai, Kamp, Timothy J, Granzier, Henk L, Guo, Wei. 2024. Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems. In Circulation. Genomic and precision medicine, 17, e004355. doi:10.1161/CIRCGEN.123.004355. https://pubmed.ncbi.nlm.nih.gov/38288598/
3. Watanabe, Takeshi, Kimura, Akinori, Kuroyanagi, Hidehito. 2018. Alternative Splicing Regulator RBM20 and Cardiomyopathy. In Frontiers in molecular biosciences, 5, 105. doi:10.3389/fmolb.2018.00105. https://pubmed.ncbi.nlm.nih.gov/30547036/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen