C57BL/6JCya-Padi6em1/Cya
Common Name:
Padi6-KO
Product ID:
S-KO-17315
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Padi6-KO
Strain ID
KOCMP-242726-Padi6-B6J-VA
Gene Name
Product ID
S-KO-17315
Gene Alias
P75; Pad6; Padi5; ePAD
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Padi6em1/Cya mice (Catalog S-KO-17315) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000038749
NCBI RefSeq
NM_153106
Target Region
Exon 2~3
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
Padi6, or peptidyl arginine deiminase 6, is a maternal factor crucial for early embryonic development and a member of the subcortical maternal complex (SCMC) [2,3,4,5,6,8]. It is less conserved than other peptidyl arginine deiminases (PADIs) and currently has no reported catalytic activity [2]. While its exact molecular mechanisms remain unknown, it is suggested to be involved in processes like embryonic genome activation, cytoplasmic lattice formation, maternal mRNA and ribosome regulation, and organelle distribution [2].
In a mouse line with a Padi6 missense variant identified in a family with Beckwith-Wiedemann syndrome and multilocus imprinting disturbances (MLID), homozygous female mice showed embryo development interruption at the two-cell stage. Analyses revealed defective oocyte maturation, incomplete DNA demethylation, abnormal regulation of zygotic genome activation (ZGA) and maternal decay genes, and abnormal localization of DNMT1 and UHRF1 in oocytes and zygotes [1]. In female mice or women, deletion and mutations of Padi6 lead to early embryonic developmental arrest, female infertility, maternal imprinting defects, and trophoblast hyperproliferation [2]. In human trophoblast cells, Padi6 was found to regulate cell migration-invasion through the Hippo/YAP1 pathway, and mutations in Padi6 in humans can cause multiple reproductive deficiencies including hydatidiform moles and miscarriages [3]. Also, biallelic mutations in Padi6 in humans cause female infertility with early embryonic arrest [4,8,9,10]. Knocking out Padi6 in mice prevents the accumulation of essential proteins for early embryonic development on cytoplasmic lattices, resulting in early embryonic arrest [7].
In summary, Padi6 plays essential roles in oocyte maturation, pre-implantation epigenetic reprogramming, ZGA, and early embryonic development. Studies using gene knockout mouse models have been crucial in revealing its functions, especially in understanding its contribution to female infertility and early embryonic arrest, highlighting its significance in reproductive biology [1,2,3,4,7,8,9,10].
References：
1. Giaccari, Carlo, Cecere, Francesco, Argenziano, Lucia, Kelsey, Gavin, Riccio, Andrea. 2024. A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos. In Genes & development, 38, 131-150. doi:10.1101/gad.351238.123. https://pubmed.ncbi.nlm.nih.gov/38453481/
2. Williams, Jack P C, Walport, Louise J. 2023. PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family. In Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 378, 20220242. doi:10.1098/rstb.2022.0242. https://pubmed.ncbi.nlm.nih.gov/37778376/
3. Huang, Bo, Zhao, Yating, Zhou, Lin, Han, Peilin, Qian, Jianhua. 2021. PADI6 Regulates Trophoblast Cell Migration-Invasion Through the Hippo/YAP1 Pathway in Hydatidiform Moles. In Journal of inflammation research, 14, 3489-3500. doi:10.2147/JIR.S313422. https://pubmed.ncbi.nlm.nih.gov/34326657/
4. Xu, Yao, Wang, Rongxiang, Pang, Zhi, Jin, Liping, Xue, Songguo. 2022. Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest. In Frontiers in cell and developmental biology, 10, 819667. doi:10.3389/fcell.2022.819667. https://pubmed.ncbi.nlm.nih.gov/35433708/
5. Fei, Cai-Feng, Zhou, Li-Quan. 2022. Gene mutations impede oocyte maturation, fertilization, and early embryonic development. In BioEssays : news and reviews in molecular, cellular and developmental biology, 44, e2200007. doi:10.1002/bies.202200007. https://pubmed.ncbi.nlm.nih.gov/35900055/
6. Sun, Qinqiang, Yang, Yuan, Zhang, Yue, Qin, Guangsheng, Fu, Qiang. 2024. Padi6 expression patterns in buffalo oocytes and preimplantation embryos. In Animal reproduction, 21, e20230146. doi:10.1590/1984-3143-AR2023-0146. https://pubmed.ncbi.nlm.nih.gov/38562607/
7. Jentoft, Ida M A, Bäuerlein, Felix J B, Welp, Luisa M, Fernández-Busnadiego, Rubén, Schuh, Melina. 2023. Mammalian oocytes store proteins for the early embryo on cytoplasmic lattices. In Cell, 186, 5308-5327.e25. doi:10.1016/j.cell.2023.10.003. https://pubmed.ncbi.nlm.nih.gov/37922900/
8. Dong, Jie, Fu, Jing, Yan, Zheng, Shi, Qiuwen, Sang, Qing. 2022. Novel biallelic mutations in PADI6 in patients with early embryonic arrest. In Journal of human genetics, 67, 285-293. doi:10.1038/s10038-021-00998-8. https://pubmed.ncbi.nlm.nih.gov/34987164/
9. Cao, Guangyi, Zhu, Xiangyu, Lin, Yuling, Wang, Shanshan, Kong, Na. 2023. A novel homozygous variant in PADI6 is associate with human cleavage-stage embryonic arrest. In Frontiers in genetics, 14, 1243230. doi:10.3389/fgene.2023.1243230. https://pubmed.ncbi.nlm.nih.gov/37712067/
10. Wang, Xiaoxia, Zhu, Huimin, He, Yi, Yao, Zhongyuan, Li, Yanping. 2022. A novel homozygous mutation in the PADI6 gene causes early embryo arrest. In Reproductive health, 19, 190. doi:10.1186/s12978-022-01495-7. https://pubmed.ncbi.nlm.nih.gov/36088419/
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