C57BL/6JCya-Ctnsem1flox/Cya
Common Name:
Ctns-flox
Product ID:
S-CKO-17042
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ctns-flox
Strain ID
CKOCMP-83429-Ctns-B6J-VA
Gene Name
Product ID
S-CKO-17042
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ctnsem1flox/Cya mice (Catalog S-CKO-17042) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000108476
NCBI RefSeq
NM_001357891
Target Region
Exon 4
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
Ctns, encoding the lysosomal membrane protein cystinosin, is crucial as it transports cystine out of lysosomes into the cytoplasm [1,2,3,4]. Mutations in Ctns lead to cystinosis, an autosomal recessive lysosomal storage disorder [1,2,3,4]. The associated disruption in cystine transport results in intra-lysosomal cystine accumulation in all body cells and organs, with the kidneys often being initially affected [2].
Cystinosis has different forms related to Ctns mutations. Nephropathic or infantile type, the most common, is characterized by renal failure at around 10 years of age and other systemic complications, associated with 32 different Ctns mutations [1]. Intermediate cystinosis, with later-onset renal disease, is linked to three different mutations, and benign or non-nephropathic cystinosis, presenting with corneal crystals and photophobia, is associated with two other mutations [1]. In general, only certain splicing or missense mutations are related to milder phenotypes [1]. More than 140 Ctns mutations have been reported worldwide [3]. Different studies have identified various mutations in different populations. For example, in Iranian nephropathic cystinosis patients, mutations were found in exons 6 and 7 in 50% of cases, and novel mutations were also detected [5]. In Tunisian patients with ocular cystinosis, 7 mutations were disclosed, including missense, duplication, frameshift, and splice-site mutations [6].
In conclusion, Ctns is essential for normal cystine transport from lysosomes. Studies on Ctns-related cystinosis, through identification of various mutations in different populations, help understand the molecular basis of the disease. This knowledge is fundamental for developing new therapeutic strategies, such as targeted gene therapy, to address the kidney and extra-renal phenotypes of cystinosis [3].
References:
1. Anikster, Y, Shotelersuk, V, Gahl, W A. . CTNS mutations in patients with cystinosis. In Human mutation, 14, 454-8. doi:. https://pubmed.ncbi.nlm.nih.gov/10571941/
2. Elmonem, Mohamed A, Veys, Koenraad R, Soliman, Neveen A, van den Heuvel, Lambertus P, Levtchenko, Elena. 2016. Cystinosis: a review. In Orphanet journal of rare diseases, 11, 47. doi:10.1186/s13023-016-0426-y. https://pubmed.ncbi.nlm.nih.gov/27102039/
3. David, Dries, Princiero Berlingerio, Sante, Elmonem, Mohamed A, Gijsbers, Rik, Levtchenko, Elena. 2018. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair. In Nephron, 141, 133-146. doi:10.1159/000495270. https://pubmed.ncbi.nlm.nih.gov/30554218/
4. Hohenfellner, Katharina, Zerell, Kirstin, Haffner, Dieter. 2023. Cystinosis. In Klinische Monatsblatter fur Augenheilkunde, 240, 251-259. doi:10.1055/a-2022-8522. https://pubmed.ncbi.nlm.nih.gov/36977426/
5. Ghazi, Farideh, Hosseini, Rozita, Akouchekian, Mansoureh, Gahl, William A, Behnam, Babak. 2017. CTNS molecular genetics profile in a Persian nephropathic cystinosis population. In Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 37, 301-310. doi:10.1016/j.nefro.2016.11.024. https://pubmed.ncbi.nlm.nih.gov/28238446/
6. Chkioua, Latifa, Amri, Yessine, Saheli, Chaima, Ghorbel, Mohamed, Laradi, Sandrine. 2022. Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis. In Diagnostic pathology, 17, 44. doi:10.1186/s13000-022-01221-8. https://pubmed.ncbi.nlm.nih.gov/35524314/
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