C57BL/6JCya-Cln6em1flox/Cya
Common Name:
Cln6-flox
Product ID:
S-CKO-16493
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Cln6-flox
Strain ID
CKOCMP-76524-Cln6-B6J-VA
Gene Name
Product ID
S-CKO-16493
Gene Alias
1810065L06Rik; D9Bwg1455e; nclf
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cln6em1flox/Cya mice (Catalog S-CKO-16493) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034776
NCBI RefSeq
NM_001033175
Target Region
Exon 2
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Cln6 is a gene encoding a transmembrane protein that resides in the endoplasmic reticulum (ER) [1,2,3,6]. It is involved in the trafficking of lysosomal proteins to the Golgi as part of the CLN6-CLN8 complex (EGRESS), recruiting lysosomal enzymes at the ER for Golgi transfer, thus playing a crucial role in lysosome biogenesis [3]. Mutations in Cln6 are linked to CLN6-related neuronal ceroid lipofuscinoses (NCLs), a group of inherited neurodegenerative diseases [1,2,4,5,6,7].
In nclf mice, a natural mouse model of CLN6-related disease, Cln6 deficiency led to a drastic reduction in the protein amounts of selected lysosomal proteins, many of which were N-glycosylated, soluble hydrolases [1]. This directly linked Cln6 dysfunction to changes in the lysosomal compartment and other NCL forms [1]. In Cln6 mutant mice, a single intracerebroventricular injection of a self-complementary adeno-associated virus serotype 9 vector expressing the human CLN6 gene at post-natal day 1 could prevent or drastically reduce all pathological hallmarks of Batten disease, with significant improvements in motor performance, learning and memory deficits, and survival [8].
In conclusion, Cln6 is essential for the proper trafficking of lysosomal proteins and normal lysosome biogenesis. The study of Cln6 knockout mouse models has significantly advanced our understanding of its role in NCLs, highlighting its potential as a therapeutic target for treating these neurodegenerative disorders [1,8].
References:
1. Tuermer, Andreas, Mausbach, Simone, Kaade, Edgar, Gieselmann, Volkmar, Thelen, Melanie. 2021. CLN6 deficiency causes selective changes in the lysosomal protein composition. In Proteomics, 21, e2100043. doi:10.1002/pmic.202100043. https://pubmed.ncbi.nlm.nih.gov/34432360/
2. Otero, Maria Gabriela, Kim, Jaemin, Kushwaha, Yogesh Kumar, Salamon, Noriko, Pierson, Tyler Mark. 2024. Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.01.29.577876. https://pubmed.ncbi.nlm.nih.gov/38352418/
3. Bajaj, Lakshya, Sharma, Jaiprakash, di Ronza, Alberto, Schekman, Randy W, Sardiello, Marco. . A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. In The Journal of clinical investigation, 130, 4118-4132. doi:10.1172/JCI130955. https://pubmed.ncbi.nlm.nih.gov/32597833/
4. Yamashita, Arisa, Shiro, Yuki, Hiraki, Yuri, Yujiri, Takatoshi, Yamazaki, Tetsuo. 2020. Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses. In Biochemical and biophysical research communications, 525, 883-888. doi:10.1016/j.bbrc.2020.03.019. https://pubmed.ncbi.nlm.nih.gov/32171521/
5. Invernizzi, Federica, Castellotti, Barbara, Reale, Chiara, Granata, Tiziana, Canafoglia, Laura. 2024. CLN6-related continuum phenotype caused by aberrant splicing. In Epilepsia open, 10, 348-354. doi:10.1002/epi4.13119. https://pubmed.ncbi.nlm.nih.gov/39718800/
6. Mole, Sara E, Michaux, Gregoire, Codlin, Sandra, Sharp, Julie D, Cutler, Daniel F. . CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. In Experimental cell research, 298, 399-406. doi:. https://pubmed.ncbi.nlm.nih.gov/15265688/
7. Shiro, Yuki, Yamashita, Arisa, Watanabe, Kana, Yamazaki, Tetsuo. . CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses. In Biomedical research (Tokyo, Japan), 42, 129-138. doi:10.2220/biomedres.42.129. https://pubmed.ncbi.nlm.nih.gov/34380921/
8. Cain, Jacob T, Likhite, Shibi, White, Katherine A, Meyer, Kathrin, Weimer, Jill M. 2019. Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease. In Molecular therapy : the journal of the American Society of Gene Therapy, 27, 1836-1847. doi:10.1016/j.ymthe.2019.06.015. https://pubmed.ncbi.nlm.nih.gov/31331814/
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