C57BL/6JCya-Ttnem1flox/Cya
Common Name:
Ttn-flox
Product ID:
S-CKO-06480
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ttn-flox
Strain ID
CKOCMP-22138-Ttn-B6J-VA
Gene Name
Product ID
S-CKO-06480
Gene Alias
1100001C23Rik; 2310036G12Rik; 2310057K23Rik; 2310074I15Rik; D330041I19Rik; D830007G01Rik; L56; mdm; shru
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ttnem1flox/Cya mice (Catalog S-CKO-06480) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000099981
NCBI RefSeq
NM_001385708
Target Region
Exon 4~6
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
Ttn, encoding the giant sarcomere protein titin, is a major determinant of cardiomyocyte stiffness and contributes to cardiac strain sensing. It plays a crucial role in regulating myocardial function, including cardiac filling and output, and is part of the contractile machinery in muscle [1,2].
Mutations in the TTN gene are the most common causes of dilated cardiomyopathy (DCM). TTN truncating variants (tTTN) lead to reduced normal TTN protein levels, production of truncated proteins, and impairment of sarcomere content and function. DCM patients with tTTN have a lower left ventricular ejection fraction and a lower frequency of the left bundle branch block compared to those without or with mutations in other known causal genes, though tTTN are not associated with the composite primary endpoint of cardiac death and heart transplantation during follow-up [3]. The prevalence of TTN mutations in DCM patients is 0.17, with 0.23 in familial DCM and 0.16 in sporadic DCM [4]. TTN truncating mutations occur in approximately 25% of familial cases and 18% of sporadic cases of idiopathic DCM, and incorporation of sequencing for TTN truncations in genetic testing for DCM can increase test sensitivity [5]. Pathogenic variants in TTN can also cause skeletal muscle diseases, with nonsense-mediated decay likely preventing harmful truncated protein accumulation in skeletal muscle in some cases [6].
In conclusion, Ttn is essential for maintaining cardiomyocyte stiffness and normal cardiac function. Studies on TTN mutations, especially in relation to DCM and skeletal muscle diseases, have provided valuable insights into the gene's function and the pathophysiology of these diseases, highlighting the importance of Ttn in understanding muscle-related disorders.
References:
1. Loescher, Christine M, Hobbach, Anastasia J, Linke, Wolfgang A. . Titin (TTN): from molecule to modifications, mechanics, and medical significance. In Cardiovascular research, 118, 2903-2918. doi:10.1093/cvr/cvab328. https://pubmed.ncbi.nlm.nih.gov/34662387/
2. Jolfayi, Amir Ghaffari, Kohansal, Erfan, Ghasemi, Serwa, Maleki, Majid, Kalayinia, Samira. 2024. Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies. In Scientific reports, 14, 5313. doi:10.1038/s41598-024-56154-7. https://pubmed.ncbi.nlm.nih.gov/38438525/
3. Xiao, Lei, Li, Chenze, Sun, Yang, Marian, Ali J, Wang, Dao Wen. 2021. Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients With Sporadic Dilated Cardiomyopathy. In Frontiers in cardiovascular medicine, 8, 657689. doi:10.3389/fcvm.2021.657689. https://pubmed.ncbi.nlm.nih.gov/33996946/
4. Fang, H-J, Liu, B-P. 2019. Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis. In Herz, 45, 29-36. doi:10.1007/s00059-019-4825-4. https://pubmed.ncbi.nlm.nih.gov/31209521/
5. Herman, Daniel S, Lam, Lien, Taylor, Matthew R G, Seidman, J G, Seidman, Christine E. . Truncations of titin causing dilated cardiomyopathy. In The New England journal of medicine, 366, 619-28. doi:10.1056/NEJMoa1110186. https://pubmed.ncbi.nlm.nih.gov/22335739/
6. Gohlke, Jochen, Lindqvist, Johan, Hourani, Zaynab, Granzier, Henk, Roggenbuck, Jennifer. . Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease. In Human molecular genetics, 33, 2003-2023. doi:10.1093/hmg/ddae136. https://pubmed.ncbi.nlm.nih.gov/39277846/
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