C57BL/6JCya-C1galt1c1em1flox/Cya
Common Name:
C1galt1c1-flox
Product ID:
S-CKO-12503
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
C1galt1c1-flox
Strain ID
CKOCMP-59048-C1galt1c1-B6J-VA
Gene Name
Product ID
S-CKO-12503
Gene Alias
1500002I11Rik; C1GalT2; Cosmc
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-C1galt1c1em1flox/Cya mice (Catalog S-CKO-12503) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000058265
NCBI RefSeq
NM_021550
Target Region
Exon 2
Size of Effective Region
~3.3 kb
Detailed Document
Overview of Gene Research
C1galt1c1, also known as COSMC, encodes a molecular chaperone in the endoplasmic reticulum and is a master regulator of O-glycosylation of mammalian glycoproteins. It is essential for the activity of T-synthase (C1GALT1), an enzyme that synthesizes the T-antigen, a crucial O-glycan core structure and precursor for extended O-glycans [1,2]. This process is involved in multiple biological pathways related to protein glycosylation, which is vital for normal cellular functions.
Mutations in C1galt1c1 have been linked to various disorders. For instance, a hemizygous variant c.59C>A (p.Ala20Asp; A20D-Cosmc) in C1galt1c1 was found in two male patients with a novel chaperonopathy, leading to impaired protein O-glycosylation, developmental delay, immunodeficiency, short stature, thrombocytopenia, and acute kidney injury resembling atypical hemolytic uremic syndrome [1]. A female patient with a de novo mosaic variant in C1galt1c1 (c.202C>T, p.Arg68*) presented with non-immune hydrops fetalis, and analysis showed reduced Cosmc and T-synthase proteins, lower T-synthase activity, and abnormal O-glycosylation [2]. In addition, in IgA nephropathy, lipopolysaccharide stimulation can inhibit C1galt1c1 expression, causing IgA1 aberrant O-glycosylation, and 5-azacytidine can reverse this by upregulating C1galt1c1 expression [3].
In conclusion, C1galt1c1 is of great significance in the regulation of O-glycosylation. Research on C1galt1c1 mutations in patients has revealed its role in multiple disease conditions, such as chaperonopathies, atypical hemolytic uremic syndrome-like conditions, and IgA nephropathy. Understanding C1galt1c1 helps in clarifying the mechanisms of protein O-glycosylation and the pathogenesis of related diseases.
References:
1. Erger, Florian, Aryal, Rajindra P, Reusch, Björn, Cummings, Richard D, Beck, Bodo B. 2023. Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. In Proceedings of the National Academy of Sciences of the United States of America, 120, e2211087120. doi:10.1073/pnas.2211087120. https://pubmed.ncbi.nlm.nih.gov/37216524/
2. Aryal, Rajindra P, Ramanujan, Aditya, Bucci, Camille, Seaver, Laurie H, Cummings, Richard D. . C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female. In Journal of inherited metabolic disease, 48, e70006. doi:10.1002/jimd.70006. https://pubmed.ncbi.nlm.nih.gov/39949072/
3. Xie, Lin-Shen, Qin, Wei, Fan, Jun-Ming, Xie, Xi-Sheng, Li, Zi. 2010. The role of C1GALT1C1 in lipopolysaccharide-induced IgA1 aberrant O-glycosylation in IgA nephropathy. In Clinical and investigative medicine. Medecine clinique et experimentale, 33, E5-13. doi:. https://pubmed.ncbi.nlm.nih.gov/20144270/
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