C57BL/6JCya-Phldb1em1/Cya
Common Name:
Phldb1-KO
Product ID:
S-KO-17411
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Phldb1-KO
Strain ID
KOCMP-102693-Phldb1-B6J-VB
Gene Name
Product ID
S-KO-17411
Gene Alias
D330037A14Rik; Ll5a; Ll5alpha
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Phldb1em1/Cya mice (Catalog S-KO-17411) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000034611
NCBI RefSeq
NM_153537
Target Region
Exon 6
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
Phldb1, encoding pleckstrin homology-like domain family B member-1 protein, has a role in insulin-dependent Akt phosphorylation [3]. Its genetic variations may be associated with multiple diseases, indicating its importance in understanding disease-related biological processes. Genetic models can help clarify the role of its polymorphisms in disease susceptibility.
Research has shown that in the Korean population, the rs67307131 SNP in Phldb1 was significantly associated with non-functional pituitary adenoma (NFPA) [1]. A meta-analysis indicated that the rs498872 polymorphism in Phldb1 was associated with an increased risk of glioma [2]. Biallelic frameshift variants in Phldb1 were identified in families with a novel, mild-type, autosomal recessive osteogenesis imperfecta, and decreased Phldb1 mRNA expression levels were detected in relevant samples [3]. In a Chinese population, the rs7389T/G polymorphism of 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 polymorphism of Phldb1 was associated with breast cancer susceptibility in a stratified analysis [5]. In a Chinese Han cohort, the Phldb1 rs7389 G/T genotype was associated with a higher IgA nephropathy risk in females [6]. In a Chinese Han population case-control study, the variant TT genotype of Phldb1 rs498872 decreased glioblastoma (GBM) risk in the recessive model [7]. In the Portuguese population, the GA genotype of the rs498872 (Phldb1) was associated with an increased risk of gliomas and glioblastomas, and the genotype AA was associated with poor overall survival of gliomas patients [8].
In conclusion, Phldb1 is involved in insulin-dependent Akt phosphorylation and its genetic variations are associated with multiple diseases such as NFPA, glioma, osteogenesis imperfecta, SLE, breast cancer, IgA nephropathy, and glioblastoma. Research on Phldb1 genetic models contributes to understanding the susceptibility and prognosis of these diseases, providing insights into the underlying biological mechanisms.
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/
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