C57BL/6JCya-Tnnt1em1/Cya
Common Name:
Tnnt1-KO
Product ID:
S-KO-19899
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Tnnt1-KO
Strain ID
KOCMP-21955-Tnnt1-B6J-VB
Gene Name
Product ID
S-KO-19899
Gene Alias
Tnt; sTnT; ssTnT
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tnnt1em1/Cya mice (Catalog S-KO-19899) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000108587
NCBI RefSeq
NM_001277903
Target Region
Exon 7~9
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Tnnt1, encoding slow skeletal muscle troponin T, is a crucial gene in the calcium regulation of actin thin filament function, essential for striated muscle contraction. It is one of three homologous genes in vertebrates, with TNNT2 for cardiac muscle TnT and TNNT3 for fast skeletal muscle TnT [1].
In genetic studies, loss-of-function mutations in TNNT1 have been linked to nemaline myopathies. For example, a Korean family with novel compound heterozygous mutations in TNNT1 showed progressive muscle weakness, and zebrafish loss-of-function models verified the impact on muscle integrity and locomotor activity [2]. French Canadians with a novel missense homozygous variant in TNNT1 developed slowly progressive limb-girdle weakness, and a zebrafish model confirmed the pathogenicity of this mutation [3]. In Amish nemaline myopathy, a lethal infantile-onset disease, a c.505G>T nonsense mutation in TNNT1 led to rapid proteolysis and clearance of the truncated protein from sarcoplasm, and similar phenotypes were observed in transgenic murine models [4].
In conclusion, TNNT1 is essential for striated muscle function. Studies using loss-of-function models, such as zebrafish and transgenic mice, have revealed its role in nemaline myopathies, providing insights into the disease mechanisms and potential molecular therapies for TNNT1-associated myopathies.
References:
1. Wei, Bin, Jin, J-P. 2016. TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships. In Gene, 582, 1-13. doi:10.1016/j.gene.2016.01.006. https://pubmed.ncbi.nlm.nih.gov/26774798/
2. Lee, Seungbok, Eum, Juneyong, Park, Soojin, Kee, Yun, Chae, Jong Hee. 2021. TNNT1 myopathy with novel compound heterozygous mutations. In Neuromuscular disorders : NMD, 32, 176-184. doi:10.1016/j.nmd.2021.12.003. https://pubmed.ncbi.nlm.nih.gov/35165004/
3. Pellerin, David, Aykanat, Asli, Ellezam, Benjamin, Brais, Bernard, Chrestian, Nicolas. 2020. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians. In Annals of neurology, 87, 568-583. doi:10.1002/ana.25685. https://pubmed.ncbi.nlm.nih.gov/31970803/
4. Fox, Michael D, Carson, Vincent J, Feng, Han-Zhong, Jin, J-P, Strauss, Kevin A. . TNNT1 nemaline myopathy: natural history and therapeutic frontier. In Human molecular genetics, 27, 3272-3282. doi:10.1093/hmg/ddy233. https://pubmed.ncbi.nlm.nih.gov/29931346/
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