Nphs2-KO Mouse
Common Name
Nphs2-KO
제품 ID
S-KO-17840
Backgroud
C57BL/6JCya
품종 계통계통 ID
KOCMP-170484-Nphs2-B6J-VB
상태
이 마우스 계통을 논문에서 사용할 경우, “Nphs2-KO Mouse (카탈로그 번호 S-KO-17840)은 Cyagen에서 구입하였습니다.”라고 명시해 주시기 바랍니다.
구매 가능한 제품 종류
연령
Genotype
성별
수량
표준 제공 조건은 최소 3마리의 이형접합(heterozygous) 보균자를 보장합니다. 동형접합(homozygous) 보균자 및/또는 특정 성별에 대한 브리딩 서비스도 제공됩니다.
기본 정보
품종 계통
Nphs2-KO
품종 계통계통 ID
KOCMP-170484-Nphs2-B6J-VB
유전자명
제품 ID
S-KO-17840
유전자 별칭
PDCN, SRN1
배경
C57BL/6JCya
NCBI ID
변형 내용
Conventional knockout
염색체
Chr 1
Phenotype
Datasheet
적용 분야
--
품종 계통 설명
Ensembl 전사체 ID
ENSMUST00000027896
NCBI 전사체 ID
NM_130456
타겟 영역
Exon 2
유효 영역 크기
~2.6 kb
유전자 연구 개요
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/
품질 관리 기준
정자 검사
동결 보존 전: 정자 농도 측정 및 정자 생존율 평가.
동결 보존 후: 각 배치에서 동결 보존된 정자 바이알 1개를 선택하여 체외수정(in vitro fertilization)에 사용합니다.
Environmental Standards:
SPFAvailable Region:
GlobalSource:
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