C57BL/6JCya-Pigaem1flox/Cya
Common Name:
Piga-flox
Product ID:
S-CKO-19234
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Piga-flox
Strain ID
CKOCMP-18700-Piga-B6J-VB
Gene Name
Product ID
S-CKO-19234
Gene Alias
Pig-a
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-Pigaem1flox/Cya mice (Catalog S-CKO-19234) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033754
NCBI RefSeq
NM_011081
Target Region
Exon 3~5
Size of Effective Region
~1.7 kb
Detailed Document
Overview of Gene Research
Piga, encoding phosphatidylinositol N-acetylglucosaminyltransferase subunit A, is crucial for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. GPI-anchored proteins are involved in cell signaling, immunity, and adhesion, highlighting the gene's overall biological importance. Drosophila models have been used to study PIGA-CDG, providing insights into the disease mechanism [5].
Somatic mutations in Piga in bone marrow hematopoietic stem cells lead to paroxysmal nocturnal hemoglobinuria (PNH), characterized by hemolytic anemia, thrombosis, and peripheral blood cytopenias due to uncontrolled complement activation from the absence of GPI-anchored proteins CD55 and CD59 [2,3,7]. Germ-line Piga mutations can cause multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) and PIGA-related congenital disorder of glycosylation (PIGA-CDG), which are associated with hypotonia, developmental delay, intractable seizures, and a high risk of premature mortality [1,4,6].
In conclusion, Piga is essential for GPI anchor biosynthesis, with its dysfunction leading to various disorders. Studies using models like Drosophila help in understanding the role of Piga in disease conditions such as PNH, MCAHS2, and PIGA-CDG, contributing to a better understanding of the underlying disease mechanisms.
References:
1. Bayat, Allan, Kløvgaard, Marius, Johannesen, Katrine M, Rubboli, Guido, Møller, Rikke S. 2020. Deciphering the premature mortality in PIGA-CDG - An untold story. In Epilepsy research, 170, 106530. doi:10.1016/j.eplepsyres.2020.106530. https://pubmed.ncbi.nlm.nih.gov/33508693/
2. Brodsky, Robert A. 2014. Paroxysmal nocturnal hemoglobinuria. In Blood, 124, 2804-11. doi:10.1182/blood-2014-02-522128. https://pubmed.ncbi.nlm.nih.gov/25237200/
3. Hill, Anita, DeZern, Amy E, Kinoshita, Taroh, Brodsky, Robert A. 2017. Paroxysmal nocturnal haemoglobinuria. In Nature reviews. Disease primers, 3, 17028. doi:10.1038/nrdp.2017.28. https://pubmed.ncbi.nlm.nih.gov/28516949/
4. Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Krawitz, Peter, Møller, Rikke S. 2020. Lessons learned from 40 novel PIGA patients and a review of the literature. In Epilepsia, 61, 1142-1155. doi:10.1111/epi.16545. https://pubmed.ncbi.nlm.nih.gov/32452540/
5. Thorpe, Holly J, Owings, Katie G, Aziz, Miriam C, Coelho, Emily, Chow, Clement Y. 2023. Drosophila models of PIGA-CDG mirror patient phenotypes. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.10.27.564441. https://pubmed.ncbi.nlm.nih.gov/37961693/
6. Liu, Xiangyu, Meng, Jing, Ma, Jinhui, Li, Dong, Cai, Chunquan. 2022. The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review. In Molecular biology reports, 49, 10469-10477. doi:10.1007/s11033-022-07614-8. https://pubmed.ncbi.nlm.nih.gov/36116096/
7. Colden, Melissa A, Kumar, Sushant, Munkhbileg, Bolormaa, Babushok, Daria V. 2022. Insights Into the Emergence of Paroxysmal Nocturnal Hemoglobinuria. In Frontiers in immunology, 12, 830172. doi:10.3389/fimmu.2021.830172. https://pubmed.ncbi.nlm.nih.gov/35154088/
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