Nphs2-KO Mouse
一般名
Nphs2-KO
製品ID
S-KO-17840
背景情報
C57BL/6JCya
系統ID
KOCMP-170484-Nphs2-B6J-VB
状況
このマウス系統を論文で使用する場合は、「Nphs2-KO Mouse（カタログ番号S-KO-17840）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Nphs2-KO
系統ID
KOCMP-170484-Nphs2-B6J-VB
遺伝子名
製品ID
S-KO-17840
遺伝子別名
PDCN, SRN1
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conventional knockout
染色体
Chr 1
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000027896
NCBIトランスクリプトID
NM_130456
ターゲット領域
Exon 2
有効領域の大きさ
~2.6 kb
遺伝子研究の概要
Nphs2, which codes for podocin, is a gene of great significance. Podocin is an integral membrane protein located at the slit diaphragm of the glomerular permeability barrier. It plays a crucial role in maintaining the integrity of the glomerular filtration barrier, and its proper function is essential for normal kidney function [1,2,4,7]. Mutations in Nphs2 can disrupt this function, leading to various kidney-related pathologies.
Mutations in Nphs2 are the most frequent genetic cause of steroid-resistant nephrotic syndrome (SRNS) [1]. In both pediatric and adult patients, homozygous or compound heterozygous mutations commonly lead to SRNS before the age of 6 years and often progress rapidly to end-stage kidney disease, with a low prevalence of recurrence after renal transplantation [3]. Screening for Nphs2 mutations in sporadic and familial cases of SRNS has documented a mutation detection rate of 45-55% in families and 8-20% in sporadic cases, depending on the groups and phenotypes considered [2]. The R229Q variant of Nphs2, which is more common among European-derived populations, shows an association with a trend toward increased focal segmental glomerulosclerosis risk in these populations, while not being associated with focal segmental glomerulosclerosis in the US population of African descent [4]. Functional studies demonstrated that most mutants involving the stomatin domain are retained in the endoplasmic reticulum, and the R229Q polymorphism shows an altered interaction with nephrin affecting the stability of the functional unit [2].
In conclusion, Nphs2 is vital for the normal function of the glomerular filtration barrier. Its mutations are strongly associated with steroid-resistant nephrotic syndrome and related kidney diseases. Understanding the role of Nphs2 through genetic studies, especially those on its mutations, provides valuable insights into the pathogenesis of these kidney disorders, which may potentially guide the development of more targeted therapeutic strategies [1,2,3,4,5,6,8,9].
References：
1. Guaragna, Mara Sanches, Lutaif, Anna Cristina G B, Maciel-Guerra, Andréa T, Guerra-Júnior, Gil, De Mello, Maricilda P. 2017. NPHS2 Mutations: A Closer Look to Latin American Countries. In BioMed research international, 2017, 7518789. doi:10.1155/2017/7518789. https://pubmed.ncbi.nlm.nih.gov/28785586/
2. Caridi, Gianluca, Perfumo, Francesco, Ghiggeri, Gian Marco. 2005. NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. In Pediatric research, 57, 54R-61R. doi:. https://pubmed.ncbi.nlm.nih.gov/15817495/
3. Bouchireb, Karim, Boyer, Olivia, Gribouval, Olivier, Dahan, Karin, Antignac, Corinne. 2013. NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum. In Human mutation, 35, 178-86. doi:10.1002/humu.22485. https://pubmed.ncbi.nlm.nih.gov/24227627/
4. Franceschini, Nora, North, Kari E, Kopp, Jeffrey B, McKenzie, Louise, Winkler, Cheryl. . NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review. In Genetics in medicine : official journal of the American College of Medical Genetics, 8, 63-75. doi:. https://pubmed.ncbi.nlm.nih.gov/16481888/
5. Baylarov, Rauf, Senol, Ozgur, Atan, Merve, Berdeli, Afig. . NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome. In Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 31, 144-149. doi:10.4103/1319-2442.279934. https://pubmed.ncbi.nlm.nih.gov/32129207/
6. Mikó, Ágnes, K Menyhárd, Dóra, Kaposi, Ambrus, Antignac, Corinne, Tory, Kálmán. 2018. The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment. In Human mutation, 39, 1854-1860. doi:10.1002/humu.23660. https://pubmed.ncbi.nlm.nih.gov/30260545/
7. Jaffer, A T, Ahmed, W U, Raju, D S, Jahan, P. . Foothold of NPHS2 mutations in primary nephrotic syndrome. In Journal of postgraduate medicine, 57, 314-20. doi:10.4103/0022-3859.90083. https://pubmed.ncbi.nlm.nih.gov/22120861/
8. Bakr, Ashraf, Yehia, Soheir, El-Ghannam, Doaa, Al-Husseni, Fatma, Al-Morsy, Zakaria. . NPHS2 mutations. In Indian journal of pediatrics, 75, 135-8. doi:. https://pubmed.ncbi.nlm.nih.gov/18334793/
9. Shi, Duomei, Zhang, Yu, Liu, Dawei, Xu, Li, Tang, Xuemei. 2021. Analysis of the clinical characteristics of arthritis with renal disease caused by a NPHS2 gene mutation. In Clinical rheumatology, 40, 3335-3343. doi:10.1007/s10067-020-05574-7. https://pubmed.ncbi.nlm.nih.gov/33428103/
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精子検査
凍結前の精子濃度を測定し、精子の生存能力の判定します。
凍結後の精子では、各バッチから1本の凍結保存された精子を選び出し、体外受精に使用します。
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