C57BL/6JCya-Tnni3em1flox/Cya
Common Name:
Tnni3-flox
Product ID:
S-CKO-06402
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tnni3-flox
Strain ID
CKOCMP-21954-Tnni3-B6J-VA
Gene Name
Product ID
S-CKO-06402
Gene Alias
Tn1; cTnI
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tnni3em1flox/Cya mice (Catalog S-CKO-06402) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000098859
NCBI RefSeq
NM_009406
Target Region
Exon 4~7
Size of Effective Region
~2.6 kb
Detailed Document
Overview of Gene Research
Tnni3, which encodes for the cardiac isoform of troponin I, is a pivotal component of the sarcomeric structure of the myocardium. Troponin I is the inhibitory subunit of the troponin complex in the sarcomeric thin filament of striated muscle, playing a central role in the calcium regulation of contraction and relaxation [2].
Homozygous Tnni3 null mutations have been found to cause a severe form of neonatal dilated cardiomyopathy. For example, two unrelated patients with early onset dilated cardiomyopathy due to homozygosity for certain Tnni3 variants were reported. One had the p.Arg98* Tnni3 variant, previously seen only in heterozygous patients and healthy carriers, and the other had the recurrent p.Arg69Alafs*8 variant [1]. Also, a consanguineous family with three deceased offspring at 1-year-old due to lethal infantile dilated cardiomyopathy was found to have a homozygous frameshift variant in the Tnni3 gene (c.204delG; p.(Arg69AlafsTer8)) [4]. Pathogenic variants in Tnni3, along with TNNT2, are associated with more severe clinical outcomes in childhood cardiomyopathy [3].
In conclusion, Tnni3 is crucial for the normal function of the myocardium, specifically in the calcium-regulated contraction and relaxation process. Studies on Tnni3-related mutations in humans have revealed its significant role in severe early-onset dilated cardiomyopathy and childhood cardiomyopathy, highlighting the importance of understanding Tnni3 function for the diagnosis and prognosis of these cardiac diseases.
References:
1. Sorrentino, Ugo, Gabbiato, Ilaria, Canciani, Chiara, Zuccarello, Daniela, Cassina, Matteo. 2023. Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature. In Genes, 14, . doi:10.3390/genes14030748. https://pubmed.ncbi.nlm.nih.gov/36981019/
2. Sheng, Juan-Juan, Jin, Jian-Ping. 2015. TNNI1, TNNI2 and TNNI3: Evolution, regulation, and protein structure-function relationships. In Gene, 576, 385-94. doi:10.1016/j.gene.2015.10.052. https://pubmed.ncbi.nlm.nih.gov/26526134/
3. Bagnall, Richard D, Singer, Emma S, Wacker, Julie, Weintraub, Robert G, Semsarian, Christopher. 2022. Genetic Basis of Childhood Cardiomyopathy. In Circulation. Genomic and precision medicine, 15, e003686. doi:10.1161/CIRCGEN.121.003686. https://pubmed.ncbi.nlm.nih.gov/36252119/
4. Kraoua, Lilia, Louati, Assaad, Ahmed, Sarra Ben, Zaffran, Stéphane, Jaouadi, Hager. . Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy. In Molecular genetics & genomic medicine, 12, e2486. doi:10.1002/mgg3.2486. https://pubmed.ncbi.nlm.nih.gov/38924380/
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