C57BL/6JCya-Phldb1em1flox/Cya
Common Name:
Phldb1-flox
Product ID:
S-CKO-18343
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Phldb1-flox
Strain ID
CKOCMP-102693-Phldb1-B6J-VB
Gene Name
Product ID
S-CKO-18343
Gene Alias
D330037A14Rik; Ll5a; Ll5alpha
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Phldb1em1flox/Cya mice (Catalog S-CKO-18343) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034611
NCBI RefSeq
NM_153537.4
Target Region
Exon 6
Size of Effective Region
~2.2 kb
Detailed Document
Overview of Gene Research
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/
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