C57BL/6JCya-B3gat3em1/Cya
Common Name:
B3gat3-KO
Product ID:
S-KO-18162
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
B3gat3-KO
Strain ID
KOCMP-72727-B3gat3-B6J-VA
Gene Name
Product ID
S-KO-18162
Gene Alias
2810405M13Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
19
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-B3gat3em1/Cya mice (Catalog S-KO-18162) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000096243
NCBI RefSeq
NM_024256
Target Region
Exon 3~5
Size of Effective Region
~1.7 kb
Detailed Document
Overview of Gene Research
B3gat3, encoding β-1,3-glucuronyltransferase 3, is involved in the linkage process of glycosaminoglycan (GAG) to the core protein to form functional proteoglycans (PGs), which are crucial for connective tissue constitution and function [1,3,4]. The normal GAG side-chain composition determined by B3gat3-mediated linkage is related to a wide range of biological events [1].
Mutations in B3gat3 lead to linkeropathies, a group of multisystem disorders. A 22-year-old female patient with a novel in-frame deletion in B3gat3 (c.61_63delCTC (p.(Leu21del))) presented with congenital severe joint malalignment, hypermobility, kyphoscoliosis, osteoporosis, diaphragmatic hernia, dental anomalies, digital malformations, and characteristic facial features [1]. A Chinese infant with two heterozygous B3gat3 variants (c.752T>C, p.V251A and c.47C>A, p.S16*) showed severe phenotypes including joint dislocation, cranial dysplasia, and aortic root dilation [2]. In a review of 23 patients from 10 families with bi-allelic mutations and one with a heterozygous splice-site mutation in B3GAT3, phenotypes such as skeletal dysplasia, facial dysmorphology, and spatulate distal phalanges were common, with more variable cardiac defects, joint hypermobility, dislocations/contractures, and fractures [3]. Some genotype-phenotype correlations emerged, with more severe phenotypes associated with mutations in the substrate acceptor subdomain of the catalytic domain [3]. Six patients from four consanguineous families with a unique homozygous mutation (c.667G>A, p.Gly223Ser) in B3GAT3 had craniosynostosis, midface hypoplasia, radioulnar synostosis, multiple neonatal fractures, dislocated joints, and cardiovascular abnormalities, and all died before 1 year of age [5].
In conclusion, B3gat3 is essential for the synthesis of functional proteoglycans in connective tissues. Research on B3gat3-related mutations in patients has revealed its role in linkeropathies, which present with a complex and variable set of phenotypes including skeletal, facial, cardiac, and joint-related abnormalities. Understanding B3gat3's function through these patient-based studies provides insights into the molecular mechanisms underlying these rare connective tissue disorders.
References:
1. Bolund, Anneli C S, Langdahl, Bente, Laurberg, Trine B, Farholt, Stense, Gregersen, Pernille A. 2021. B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient. In European journal of medical genetics, 64, 104342. doi:10.1016/j.ejmg.2021.104342. https://pubmed.ncbi.nlm.nih.gov/34537402/
2. Li, Ying, Zhang, Chuangwen, Zhang, Hongyu, Wang, Qiuji, Fan, Ruixin. 2022. Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review. In BMC medical genomics, 15, 27. doi:10.1186/s12920-022-01160-9. https://pubmed.ncbi.nlm.nih.gov/35151321/
3. Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Symoens, Sofie, Malfait, Fransiska. 2019. The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review. In Orphanet journal of rare diseases, 14, 138. doi:10.1186/s13023-019-1110-9. https://pubmed.ncbi.nlm.nih.gov/31196143/
4. Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Chiarelli, Nicola, Colombi, Marina. 2019. Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. In Genes, 10, . doi:10.3390/genes10090631. https://pubmed.ncbi.nlm.nih.gov/31438591/
5. Yauy, Kevin, Tran Mau-Them, Frederic, Willems, Marjolaine, Barat-Houari, Mouna, Genevieve, David. 2017. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. In Genetics in medicine : official journal of the American College of Medical Genetics, 20, 269-274. doi:10.1038/gim.2017.109. https://pubmed.ncbi.nlm.nih.gov/28771243/
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