C57BL/6JCya-Gtdc1em1/Cya
Common Name:
Gtdc1-KO
Product ID:
S-KO-19179
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gtdc1-KO
Strain ID
KOCMP-227835-Gtdc1-B6J-VB
Gene Name
Product ID
S-KO-19179
Gene Alias
E330008O22Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gtdc1em1/Cya mice (Catalog S-KO-19179) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000112810
NCBI RefSeq
NM_172662
Target Region
Exon 4~11
Size of Effective Region
~191.5 kb
Detailed Document
Overview of Gene Research
Gtdc1, glycosyltransferase-like domain containing 1, is a gene encoding a putative glycosyltransferase. Glycosyltransferases are involved in the synthesis of carbohydrate portions of glycoproteins, glycolipids, and proteoglycans. Gtdc1 has been implicated in various biological processes and diseases. Its expression is particularly enriched in the nervous system, suggesting a role in neurodevelopment [2,3].
In terms of disease-related findings, a de novo intragenic deletion of exons 5-6 of GTDC1 in a female individual was associated with a developmental encephalopathy characterized by epilepsy, severe intellectual disability, speech delay, microcephaly, and thin corpus callosum with facial dysmorphisms. RNA-seq analysis showed changes in glycine/serine and cytokine/chemokine signalling pathways, and increased glycine levels in the proband compared to controls, indicating that GTDC1 downregulation may be involved in neurodevelopmental impairment by altering glycine metabolism [2]. Also, disruption of GTDC1 in a patient with neurodevelopmental disorders, and in wild-type human neural progenitor cells and neurons, led to similar phenotypic defects, and a zebrafish model demonstrated its role in central nervous system development [3]. Additionally, prenatal prednisone exposure in rats decreased cartilage circRNomics, with circGtdc1 decreasing most significantly. This led to reduced chondrocyte proliferation and matrix synthesis, causing chondrodysplasia and increased susceptibility to osteoarthritis. Overexpression of circGtdc1 in vivo could ameliorate this condition [1].
In conclusion, Gtdc1 is crucial in neurodevelopment and cartilage-related biological processes. Research on Gtdc1 using gene-disrupted models, such as in patients with deletions and in zebrafish, has revealed its role in neurodevelopmental disorders and chondrodysplasia. Understanding Gtdc1 function provides insights into the mechanisms of these diseases, potentially guiding the development of new therapeutic strategies.
References:
1. Liu, Liang, Hong, Yuntian, Ma, Chi, Wang, Hui, Chen, Liaobin. 2024. Circular RNA Gtdc1 Protects Against Offspring Osteoarthritis Induced by Prenatal Prednisone Exposure by Regulating SRSF1-Fn1 Signaling. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 11, e2307442. doi:10.1002/advs.202307442. https://pubmed.ncbi.nlm.nih.gov/38520084/
2. Errichiello, Edoardo, Lecca, Mauro, Vantaggiato, Chiara, Pollegioni, Loredano, Bonaglia, Maria Clara. 2024. Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. In European journal of human genetics : EJHG, 32, 920-927. doi:10.1038/s41431-024-01603-0. https://pubmed.ncbi.nlm.nih.gov/38605125/
3. Aksoy, Irene, Utami, Kagistia H, Winata, Cecilia L, Stanton, Lawrence W, Cacheux, Valere. . Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders. In Human molecular genetics, 26, 367-382. doi:10.1093/hmg/ddw393. https://pubmed.ncbi.nlm.nih.gov/28365779/
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