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C57BL/6JCya-Ttll1em1flox/Cya
Common Name:
Ttll1-flox
Product ID:
S-CKO-10366
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ttll1-flox
Strain ID
CKOCMP-319953-Ttll1-B6J-VA
Gene Name
Ttll1
Product ID
S-CKO-10366
Gene Alias
6330444E16Rik
Background
C57BL/6JCya
NCBI ID
319953
Modification
Conditional knockout
Chromosome
15
Phenotype
MGI:2443047
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ttll1em1flox/Cya mice (Catalog S-CKO-10366) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000016897
NCBI RefSeq
NM_178869
Target Region
Exon 6
Size of Effective Region
~0.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Ttll1, short for Tubulin tyrosine ligase-like 1, is a key enzyme in the tubulin tyrosine ligase superfamily. It is involved in the post-translational polyglutamylation of tubulin in axonemal microtubules within cilia and flagella. Polyglutamylation is a dynamic process that modulates microtubule-interacting proteins and is essential for microtubule-related functions, which are crucial for various biological processes such as cell motility, neuronal development, and axonal transport [3,4].

In gene-knockout mouse models, Ttll1 deficiency leads to several phenotypes. In pcd mice (mutant of Nna1/CCP1 gene), loss of Ttll1 attenuates Purkinje cell loss and function, reduces olfactory bulb mitral cell death, and retinal photoreceptor degeneration. It also rescues impaired rhodopsin trafficking in photoreceptors [1]. In another context, Ttll1-KO mice show abnormal behaviors and an increase in glutamate in the brain, suggesting that Ttll1-mediated tubulin polyglutamylation acts as a glutamate pool in neurons [2]. Moreover, Ttll1-KO male mice exhibit chronic rhinosinusitis, otitis media, male infertility due to abnormal sperm flagella, and accumulations of exudates in the nasal passages and sinuses [4].

In conclusion, Ttll1 is essential for normal ciliary and flagellar functions, as well as for maintaining proper neuronal function. The study of Ttll1 using KO mouse models has provided insights into its role in neurodegenerative diseases, male infertility, and rhinosinusitis-related conditions, highlighting its significance in understanding these biological processes and disease mechanisms.

References:
1. Wu, Hui-Yuan, Rong, Yongqi, Bansal, Parmil K, Guo, Hong, Morgan, James I. 2022. TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice. In PLoS genetics, 18, e1010144. doi:10.1371/journal.pgen.1010144. https://pubmed.ncbi.nlm.nih.gov/35404950/
2. Ping, Yashuang, Ohata, Kenji, Kikushima, Kenji, Konishi, Yoshiyuki, Setou, Mitsutoshi. 2023. Tubulin Polyglutamylation by TTLL1 and TTLL7 Regulate Glutamate Concentration in the Mice Brain. In Biomolecules, 13, . doi:10.3390/biom13050784. https://pubmed.ncbi.nlm.nih.gov/37238654/
3. Trichet, V, Ruault, M, Roizès, G, De Sario, A. . Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1. In Gene, 257, 109-17. doi:. https://pubmed.ncbi.nlm.nih.gov/11054573/
4. Vogel, P, Hansen, G, Fontenot, G, Read, R. 2010. Tubulin tyrosine ligase-like 1 deficiency results in chronic rhinosinusitis and abnormal development of spermatid flagella in mice. In Veterinary pathology, 47, 703-12. doi:10.1177/0300985810363485. https://pubmed.ncbi.nlm.nih.gov/20442420/
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
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