C57BL/6JCya-Golga2em1/Cya
Common Name:
Golga2-KO
Product ID:
S-KO-19823
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Golga2-KO
Strain ID
KOCMP-99412-Golga2-B6J-VB
Gene Name
Product ID
S-KO-19823
Gene Alias
GM130
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-Golga2em1/Cya mice (Catalog S-KO-19823) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000100194
NCBI RefSeq
NM_133852
Target Region
Exon 14
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
GOLGA2, also known as GM130, is a cis-Golgi matrix protein. It plays a crucial role in glycosylation and transport of proteins in the secretory pathway. It is also involved in vesicle tethering, cell proliferation, and autophagy [1,3]. Genetic models, such as knockout mouse models, are valuable for studying its functions.
The deletion of GOLGA2 in mice induces autophagy with Golgi disruption. This autophagy induction leads to fibrosis along with the reduction of subcellular lipid storage in the lung and liver, indicating associations among Golgi function, fibrosis, and autophagy [2]. In addition, knockdown of golga2 in zebrafish resulted in severe skeletal muscle disorganization and microcephaly, suggesting an important developmental role of GM130 in vertebrates [4]. A human patient with a homozygous loss-of-function mutation in GOLGA2 presented a neuromuscular disorder, and a second consanguineous family with bi-allelic loss-of-function mutations showed microcephaly, seizures, and myopathy, emphasizing the critical developmental requirement of GOLGA2 [4,5].
In conclusion, GOLGA2 is essential for normal development and physiological functions, being involved in processes like autophagy, protein transport, and glycosylation. Studies using gene-knockout models in mice and zebrafish have revealed its role in neuromuscular disorders and fibrosis, contributing to our understanding of the underlying mechanisms and potential therapeutic targets for related diseases.
References:
1. Joachim, Justin, Tooze, Sharon A. . GABARAP activates ULK1 and traffics from the centrosome dependent on Golgi partners WAC and GOLGA2/GM130. In Autophagy, 12, 892-3. doi:10.1080/15548627.2016.1159368. https://pubmed.ncbi.nlm.nih.gov/26986052/
2. Park, Sungjin, Kim, Sanghwa, Kim, Min Jung, Park, Jongsun, Cho, Myung-Haing. 2017. GOLGA2 loss causes fibrosis with autophagy in the mouse lung and liver. In Biochemical and biophysical research communications, 495, 594-600. doi:10.1016/j.bbrc.2017.11.049. https://pubmed.ncbi.nlm.nih.gov/29128360/
3. Chang, Seung-Hee, Hong, Seong-Ho, Jiang, Hu-Lin, Chae, Chanhee, Cho, Myung-Haing. 2012. GOLGA2/GM130, cis-Golgi matrix protein, is a novel target of anticancer gene therapy. In Molecular therapy : the journal of the American Society of Gene Therapy, 20, 2052-63. doi:10.1038/mt.2012.125. https://pubmed.ncbi.nlm.nih.gov/22735382/
4. Shamseldin, Hanan E, Bennett, Alexis H, Alfadhel, Majid, Gupta, Vandana, Alkuraya, Fowzan S. 2016. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. In Human genetics, 135, 245-251. doi:10.1007/s00439-015-1632-8. https://pubmed.ncbi.nlm.nih.gov/26742501/
5. Kotecha, Udhaya, Mistri, Mehul, Shah, Nidhi, Shah, Parth S, Gupta, Vandana A. 2021. Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family. In Clinical genetics, 100, 748-751. doi:10.1111/cge.14053. https://pubmed.ncbi.nlm.nih.gov/34424553/
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