C57BL/6JCya-Lpin2em1flox/Cya
Common Name:
Lpin2-flox
Product ID:
S-CKO-12787
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Lpin2-flox
Strain ID
CKOCMP-64898-Lpin2-B6J-VA
Gene Name
Product ID
S-CKO-12787
Gene Alias
2610511G02Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Lpin2em1flox/Cya mice (Catalog S-CKO-12787) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000126681
NCBI RefSeq
NM_001164885
Target Region
Exon 4
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
LPIN2, located on the short arm of chromosome 18, is involved in multiple biological processes. In Dictyostelium, it serves as the phosphatase dominating the penultimate step of neutral lipid biosynthesis [2]. In rodents, it is associated with axon regeneration as the RNA m6A demethylase ALKBH5 increases the stability of Lpin2 mRNA, influencing regenerative growth associated lipid metabolism in dorsal root ganglion neurons [6].
LPIN2 is highly relevant in human diseases. Biallelic variants in LPIN2 cause Majeed syndrome, a rare non-inflammasome autoinflammatory disease. Clinical manifestations often include chronic recurrent osteomyelitis, chronic anaemia, and sometimes neutrophilic dermatosis [1,3,5]. Functional studies on a patient with Majeed syndrome revealed that LPIN2 deficiency drives the differentiation of pro-inflammatory M2-like macrophages and enhances intrinsic osteoclastogenesis, differentiating Majeed syndrome from other IL-1-mediated autoinflammatory diseases [3]. Also, the rs3745012 SNP of LPIN2 gene is associated with type 2 diabetes and fat distribution [4]. In chickens, variants in LPIN2 are associated with various performance traits such as growth, carcass, meat quality traits, and serum biochemistry parameters [7].
In conclusion, LPIN2 is crucial for lipid metabolism, axon regeneration, and has significant implications in multiple disease conditions, especially Majeed syndrome, type 2 diabetes, and certain performance-related traits in chickens. Understanding LPIN2 through functional studies provides insights into the underlying biological mechanisms and potential therapeutic targets for related diseases.
References:
1. Badiger, Vaishnavi Ashok, Balan, Suma, Madan, Sumanth, Shah, Hitesh, Narayanan, Dhanya Lakshmi. 2023. LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature. In Clinical dysmorphology, 33, 27-30. doi:10.1097/MCD.0000000000000476. https://pubmed.ncbi.nlm.nih.gov/37865862/
2. Kappelt, Frederik, Maniak, Markus. 2024. LPIN2 is the phosphatase dominating the penultimate step of neutral lipid biosynthesis in Dictyostelium. In microPublication biology, 2024, . doi:10.17912/micropub.biology.001296. https://pubmed.ncbi.nlm.nih.gov/39512784/
3. Bhuyan, Farzana, de Jesus, Adriana A, Mitchell, Jacob, Ferguson, Polly J, Goldbach-Mansky, Raphaela. 2021. Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis. In Arthritis & rheumatology (Hoboken, N.J.), 73, 1021-1032. doi:10.1002/art.41624. https://pubmed.ncbi.nlm.nih.gov/33314777/
4. Aulchenko, Yurii S, Pullen, Jan, Kloosterman, Wigard P, Oostra, Ben A, van Duijn, Cornelia M. 2007. LPIN2 is associated with type 2 diabetes, glucose metabolism, and body composition. In Diabetes, 56, 3020-6. doi:. https://pubmed.ncbi.nlm.nih.gov/17804763/
5. Liu, Jun, Hu, Xu-Yun, Zhao, Zhi-Peng, Hao, Chan-Juan, Xu, Bao-Ping. 2019. Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. In BMC medical genetics, 20, 182. doi:10.1186/s12881-019-0919-3. https://pubmed.ncbi.nlm.nih.gov/31727123/
6. Wang, Dong, Zheng, Tiemei, Zhou, Songlin, Mao, Susu, Yu, Bin. 2023. Promoting axon regeneration by inhibiting RNA N6-methyladenosine demethylase ALKBH5. In eLife, 12, . doi:10.7554/eLife.85309. https://pubmed.ncbi.nlm.nih.gov/37535403/
7. Huang, Y, Zhang, C, Zhang, W, Kang, X, Chen, W. . Variation in the chicken LPIN2 gene and association with performance traits. In British poultry science, 56, 175-83. doi:10.1080/00071668.2015.1008994. https://pubmed.ncbi.nlm.nih.gov/25668704/
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