Phldb1-flox Mouse
一般名
Phldb1-flox
製品ID
S-CKO-18343
背景情報
C57BL/6JCya
系統ID
CKOCMP-102693-Phldb1-B6J-VB
状況
このマウス系統を論文で使用する場合は、「Phldb1-flox Mouse（カタログ番号S-CKO-18343）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
Phldb1-flox
系統ID
CKOCMP-102693-Phldb1-B6J-VB
遺伝子名
製品ID
S-CKO-18343
遺伝子別名
Ll5a, Ll5alpha, D330037A14Rik
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conditional knockout
染色体
Chr 9
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
ENSMUST00000034611
NCBIトランスクリプトID
NM_153537.4
ターゲット領域
Exon 6
有効領域の大きさ
~2.2 kb
遺伝子研究の概要
Phldb1, or pleckstrin homology-like domain family B member 1, is an insulin-responsive protein. It contains a pleckstrin homology domain that binds phosphatidylinositol, as well as a Forkhead-associated domain and coiled-coil regions. PHLDB1 plays a role in insulin-dependent Akt phosphorylation, enhancing Akt activation, deoxyglucose transport, and GLUT4 translocation in adipocytes [9].
Genetic variations in PHLDB1 are associated with various diseases. In a Korean population, the rs67307131 SNP in PHLDB1 was significantly associated with non-functional pituitary adenoma (NFPA) [1]. A meta-analysis showed that the rs498872 polymorphism in PHLDB1 was associated with an increased risk of glioma [2]. Biallelic frameshift variants in PHLDB1 were identified in patients with a novel, mild-type, autosomal recessive osteogenesis imperfecta with regressive spondylometaphyseal changes [3]. In Chinese patients, the rs7389T/G polymorphism in PHLDB1 was related to systemic lupus erythematosus (SLE) susceptibility, with the G allele related to an increased level of TNF-α [4]. In the Chinese Han population, the rs17748 SNP in PHLDB1 was associated with breast cancer risk [5]. The rs7389 G/T genotype in PHLDB1 was associated with a higher IgA nephropathy risk in females [6]. In the Chinese Han population, the variant TT genotype of PHLDB1 rs498872 decreased glioblastoma (GBM) risk in the recessive model, and in the Portuguese population, the GA genotype of rs498872 was associated with an increased risk of gliomas and glioblastomas [7,8].
In conclusion, PHLDB1 is crucial in insulin-related metabolic processes. The identification of its genetic polymorphisms associated with multiple diseases, such as NFPA, glioma, osteogenesis imperfecta, SLE, breast cancer, IgA nephropathy, and GBM, through genetic studies, provides insights into the role of PHLDB1 in disease susceptibility. These findings contribute to a better understanding of the molecular mechanisms underlying these diseases and may potentially guide future diagnostic and therapeutic strategies.
References：
1. Kim, Lyoung Hyo, Kim, Jeong-Hyun, Namgoong, Suhg, Chang, Jong Hee, Shin, Hyoung Doo. 2019. A PHLDB1 variant associated with the nonfunctional pituitary adenoma. In Journal of neuro-oncology, 142, 223-229. doi:10.1007/s11060-018-03082-y. https://pubmed.ncbi.nlm.nih.gov/30868356/
2. Gao, Xingchun, Mi, Yajing, Yan, Aili, Jiang, Fengliang, Gou, Xingchun. 2014. The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis. In Asia-Pacific journal of clinical oncology, 11, e13-21. doi:10.1111/ajco.12211. https://pubmed.ncbi.nlm.nih.gov/24935770/
3. Tuysuz, Beyhan, Uludag Alkaya, Dilek, Geyik, Filiz, Vural, Mehmet, Bilguvar, Kaya. 2022. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. In Journal of medical genetics, 60, 819-826. doi:10.1136/jmg-2022-108763. https://pubmed.ncbi.nlm.nih.gov/36543534/
4. Zhai, Jianzhao, Zhang, Ping, Zhang, Naidan, Luo, Yubin, Wu, Yongkang. 2022. Analysis of WDFY4 rs7097397 and PHLDB1 rs7389 polymorphisms in Chinese patients with systemic lupus erythematosus. In Clinical rheumatology, 41, 2035-2042. doi:10.1007/s10067-022-06103-4. https://pubmed.ncbi.nlm.nih.gov/35188604/
5. Wei, Ying, Wang, Xiaolin, Zhang, Zhe, Cao, Hongxin, Zhao, Xinhan. . Role of Polymorphisms of FAM13A, PHLDB1, and CYP24A1 in Breast Cancer Risk. In Current molecular medicine, 19, 579-588. doi:10.2174/1566524019666190619125109. https://pubmed.ncbi.nlm.nih.gov/31215377/
6. Feng, Yuan, Su, Yan, Ma, Chunyang, Li, Wenning, Wei, Jiali. 2019. 3'UTR variants of TNS3, PHLDB1, NTN4, and GNG2 genes are associated with IgA nephropathy risk in Chinese Han population. In International immunopharmacology, 71, 295-300. doi:10.1016/j.intimp.2019.03.041. https://pubmed.ncbi.nlm.nih.gov/30928649/
7. Yang, Bo, Heng, Liang, Du, Shuli, Lang, Hongjun, Li, Shanqu. 2015. Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study. In Medical science monitor : international medical journal of experimental and clinical research, 21, 1983-8. doi:10.12659/MSM.893723. https://pubmed.ncbi.nlm.nih.gov/26156397/
8. Viana-Pereira, Marta, Moreno, Daniel Antunes, Linhares, Paulo, Vaz, Rui, Reis, Rui Manuel. 2019. Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients. In Molecular biology reports, 47, 877-886. doi:10.1007/s11033-019-05178-8. https://pubmed.ncbi.nlm.nih.gov/31721021/
9. Zhou, Qiong L, Jiang, Zhen Y, Mabardy, Allan S, Chawla, Anil, Czech, Michael P. 2010. A novel pleckstrin homology domain-containing protein enhances insulin-stimulated Akt phosphorylation and GLUT4 translocation in adipocytes. In The Journal of biological chemistry, 285, 27581-9. doi:10.1074/jbc.M110.146886. https://pubmed.ncbi.nlm.nih.gov/20587420/
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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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