C57BL/6JCya-Ttc12em1/Cya
Common Name:
Ttc12-KO
Product ID:
S-KO-19229
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ttc12-KO
Strain ID
KOCMP-235330-Ttc12-B6J-VB
Gene Name
Product ID
S-KO-19229
Gene Alias
E330017O07Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ttc12em1/Cya mice (Catalog S-KO-19229) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000055096
NCBI RefSeq
NM_172770
Target Region
Exon 3~6
Size of Effective Region
~3.2 kb
Detailed Document
Overview of Gene Research
Ttc12 encodes a cytoplasmic and centromere-localized protein. It plays a crucial role in the proper assembly of dynein arm complexes in motile cilia of respiratory cells and sperm flagella, thus being important for cellular motility [4].
Loss-of-function mutations in TTC12 were identified in individuals with primary ciliary dyskinesia (PCD). In sperm flagella of affected individuals, both outer and inner dynein arms (ODAs and IDAs) were absent, while in respiratory cilia, only IDAs were missing [1]. In Chinese patients with multisystem ciliopathy syndromes, compound heterozygous mutations of TTC12 were found, leading to ultrastructural defects of the inner dynein arms [2]. Also, novel homozygous TTC12 variants in infertile Chinese males caused male infertility with asthenoteratozoospermia due to dynein arm complex and mitochondrial sheath defects in flagella [3]. A novel homozygous missense TTC12 variant in an infertile Pakistani man caused severe oligoasthenoteratozoospermia and PCD, with disorganized axonemal structure in sperm flagella [4].
In conclusion, Ttc12 is essential for the assembly of dynein arm complexes in motile cilia and flagella. Research on Ttc12 loss-of-function mutations in human subjects has revealed its significant role in PCD and male infertility, highlighting its importance in understanding the genetic basis of these diseases.
References:
1. Thomas, Lucie, Bouhouche, Khaled, Whitfield, Marjorie, Amselem, Serge, Legendre, Marie. 2020. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. In American journal of human genetics, 106, 153-169. doi:10.1016/j.ajhg.2019.12.010. https://pubmed.ncbi.nlm.nih.gov/31978331/
2. Chen, Weicheng, Wang, Feifei, Zeng, Weijia, Zhang, Yuan, Zhou, Xiangyu. 2022. Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes. In Human genomics, 16, 48. doi:10.1186/s40246-022-00421-z. https://pubmed.ncbi.nlm.nih.gov/36273201/
3. Meng, Lanlan, Liu, Qiang, Tan, Chen, Zhang, Huan, Tan, Yue-Qiu. 2023. Novel homozygous variants in TTC12 cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella. In Frontiers in cell and developmental biology, 11, 1184331. doi:10.3389/fcell.2023.1184331. https://pubmed.ncbi.nlm.nih.gov/37325566/
4. Ali, Imtiaz, Ali, Haider, Unar, Ahsanullah, Shah, Wasim, Shi, Qinghua. 2024. A novel homozygous missense TTC12 variant identified in an infertile Pakistani man with severe oligoasthenoteratozoospermia and primary ciliary dyskinesia. In Molecular genetics and genomics : MGG, 299, 69. doi:10.1007/s00438-024-02161-2. https://pubmed.ncbi.nlm.nih.gov/38992144/
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