C57BL/6JCya-Nansem1flox/Cya
Common Name:
Nans-flox
Product ID:
S-CKO-17238
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nans-flox
Strain ID
CKOCMP-94181-Nans-B6J-VA
Gene Name
Product ID
S-CKO-17238
Gene Alias
4632418E04Rik; Sas
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nansem1flox/Cya mice (Catalog S-CKO-17238) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000030018
NCBI RefSeq
NM_053179
Target Region
Exon 3
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
NANS, encoding the synthase for N-acetylneuraminic acid (sialic acid), is essential in the de novo sialic acid synthesis pathway. Sialic acid at the end of glycoconjugates is crucial for biological processes like brain and skeletal development [1,3].
In humans, biallelic mutations in NANS lead to NANS-CDG, a congenital disorder of glycosylation. Patients show features such as intellectual developmental disorder, facial dysmorphisms, neurologic impairment, short stature, and skeletal dysplasia [1,2]. Knockdown of nansa in zebrafish embryos results in abnormal skeletal development, and exogenous sialic acid partially rescues this phenotype, indicating NANS-mediated sialic acid synthesis is required for early brain and skeletal development [3]. In human cortical organoids, NANS mutation leads to absence of sialic acid and protein polysialylation, reduced neural progenitor proliferation, and disrupted neural migration, differentiation, synapse formation, and neuronal activity [4].
In conclusion, NANS is vital for sialic acid synthesis, which is crucial for brain and skeletal development. Studies on NANS-related models, like zebrafish knockdown and human organoids with NANS mutation, have enhanced our understanding of its role in these processes and in the disease NANS-CDG [1-3,6].
References:
1. den Hollander, Bibiche, Rasing, Anne, Post, Merel A, Lefeber, Dirk J, van Karnebeek, Clara D M. 2021. NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum. In Frontiers in neurology, 12, 668640. doi:10.3389/fneur.2021.668640. https://pubmed.ncbi.nlm.nih.gov/34163424/
2. Yoo, Sukdong, Cheon, Chong Kun. 2024. NANS-CDG: Expanding clinical insights with a novel patient with novel variants. In American journal of medical genetics. Part A, 194, e63721. doi:10.1002/ajmg.a.63721. https://pubmed.ncbi.nlm.nih.gov/38822623/
3. van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Wevers, Ron A, Superti-Furga, Andrea. 2016. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. In Nature genetics, 48, 777-84. doi:10.1038/ng.3578. https://pubmed.ncbi.nlm.nih.gov/27213289/
4. Bu, Qian, Dai, Yanping, Zhang, Huaqin, Zhao, Yinglan, Cen, Xiaobo. 2023. Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation. In Science advances, 9, eadf2772. doi:10.1126/sciadv.adf2772. https://pubmed.ncbi.nlm.nih.gov/38000033/
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