C57BL/6JCya-Ctnsem1/Cya
Common Name:
Ctns-KO
Product ID:
S-KO-17438
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ctns-KO
Strain ID
KOCMP-83429-Ctns-B6J-VB
Gene Name
Product ID
S-KO-17438
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ctnsem1/Cya mice (Catalog S-KO-17438) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000108476
NCBI RefSeq
NM_001357891
Target Region
Exon 4
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Ctns encodes the lysosomal membrane protein cystinosin. Cystinosin has 367 amino acids and seven transmembrane domains, and its key function is to transport cystine out of lysosomes. Mutations in Ctns lead to cystinosis, an autosomal recessive lysosomal storage disease [1,2,3,4]. Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children [2].
To date, more than 140 CTNS mutations have been reported worldwide [3]. Different mutations are associated with various forms of cystinosis. The nephropathic or infantile type, the most common form, is characterized by renal failure at around 10 years old and other systemic complications. Intermediate cystinosis has a later onset of renal disease, while benign or non-nephropathic cystinosis mainly presents with corneal crystals and photophobia [1]. In general, certain splicing or missense mutations are related to milder cystinosis phenotypes [1]. Some studies have also discovered that cystinosin has functions beyond cystine transport, such as regulating the oxidative state, lysosomal dynamics, and autophagy [3].
In conclusion, Ctns is crucial for normal cystine transport out of lysosomes. Mutations in Ctns lead to cystinosis, a disease with various clinical phenotypes depending on the type of mutation. Understanding Ctns and its associated mutations helps in comprehending the molecular basis of cystinosis, which may potentially guide the development of new therapeutic strategies for this rare disease.
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/
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