Lepr-flox Mouse
一般名
Lepr-flox
製品ID
S-CKO-03378
背景情報
C57BL/6JCya
系統ID
CKOCMP-16847-Lepr-B6J-VA
状況
このマウス系統を論文で使用する場合は、「Lepr-flox Mouse（カタログ番号S-CKO-03378）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
Lepr-flox
系統ID
CKOCMP-16847-Lepr-B6J-VA
遺伝子名
製品ID
S-CKO-03378
遺伝子別名
db, Obr, obl, Leprb, Modb1, LEPROT, OB-RGRP, diabetes, obese-like
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conditional knockout
染色体
Chr 4
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
ENSMUST00000106921
NCBIトランスクリプトID
NM_001122899
ターゲット領域
Exon 3~4
有効領域の大きさ
~3.5 kb
遺伝子研究の概要
Lepr, short for leptin receptor, is a key component in the leptin signaling pathway. Leptin, a hormone protein, regulates food intake and energy expenditure, and Lepr is essential for leptin to exert its functions, thus playing a vital role in maintaining energy homeostasis [8].
A meta-analysis including 16 individual studies with 7827 subjects suggested that LEPR Gln223Arg polymorphism may not affect the susceptibility to type 2 diabetes (T2DM) [1]. Another meta-analysis showed that rs1137101 (p.R223Q) in LEPR was significantly associated with T2DM in all genetic models, while rs1137100 (p.R109K) and rs8179183 (p.K656N) were not significantly associated with T2DM [8].
In the context of cancer, a meta-analysis of 5819 cases and 8068 controls found that the LEPR K109R (rs1137100) genetic polymorphism did not significantly affect the overall cancer risk, but was associated with breast, lung, and gastric cancers in specific genetic models [4]. LEPR hypomethylation was significantly associated with gastric cancer in males, and it might also have the potential to predict recurrence in GC patients [2]. For colorectal cancer in the Mexican population, the c.326A>G heterozygous genotype of LEPR revealed an increased risk, while the AG haplotype had a protective effect [5].
In Chinese Mulao people, rs1137100, rs2767485, and rs465555 of LEPR were associated with osteoporosis [6]. In the Ukrainian population, the presence of the LEPR gene (rs1137101) polymorphism indicates an increased risk of the metabolic syndrome development [7]. Monoallelic pathogenic LEPR variants were functionally tested and do not elevate the risk of obesity or BMI levels [3].
In conclusion, Lepr is crucial for energy homeostasis regulation. Studies on Lepr gene polymorphisms and methylation have revealed its associations with various diseases such as T2DM, different types of cancers, osteoporosis, and metabolic syndrome. Functional studies of Lepr, especially those on its gene polymorphisms, contribute to understanding the genetic basis of these diseases and may provide potential targets for disease prevention and treatment.
References：
1. Liu, Ying, Chen, Shu-Qin, Jing, Zhao-Hai, Wang, Robin, Wang, Yan-Gang. 2015. Association of LEPR Gln223Arg polymorphism with T2DM: A meta-analysis. In Diabetes research and clinical practice, 109, e21-6. doi:10.1016/j.diabres.2015.05.042. https://pubmed.ncbi.nlm.nih.gov/26094585/
2. Yu, Hang, Pan, Ranran, Qi, Yuanling, Xu, Mingqing, Duan, Shiwei. 2020. LEPR hypomethylation is significantly associated with gastric cancer in males. In Experimental and molecular pathology, 116, 104493. doi:10.1016/j.yexmp.2020.104493. https://pubmed.ncbi.nlm.nih.gov/32659237/
3. Delplanque, Jérôme, Le Collen, Lauriane, Loiselle, Hélène, Froguel, Philippe, Bonnefond, Amélie. 2024. Monoallelic pathogenic variants in LEPR do not cause obesity. In American journal of human genetics, 111, 2668-2674. doi:10.1016/j.ajhg.2024.10.014. https://pubmed.ncbi.nlm.nih.gov/39561769/
4. Shi, Hui, Shu, Hexi, Huang, Changjia, Yang, Yong, Liu, Pengcheng. . Association of LEPR K109R polymorphisms with cancer risk: a systematic review and pooled analysis. In Journal of B.U.ON. : official journal of the Balkan Union of Oncology, 19, 847-54. doi:. https://pubmed.ncbi.nlm.nih.gov/25261678/
5. Partida, Miriam, Gutiérrez, Melva, Ayala, María de la Luz, Alvizo, Carlos Rogelio, Peregrina, Jorge. 2019. LEPR polymorphisms and haplotypes in Mexican patients with colorectal cancer. In Biomedica : revista del Instituto Nacional de Salud, 39, 205-211. doi:10.7705/biomedica.v39i1.4091. https://pubmed.ncbi.nlm.nih.gov/31021558/
6. Ye, Guangbin, Huang, Yandong, Yin, Lianfei, Huang, Xiufeng, Bin, Xiaoyun. . Association between LEPR polymorphism and susceptibility of osteoporosis in Chinese Mulao people. In Artificial cells, nanomedicine, and biotechnology, 50, 10-16. doi:10.1080/21691401.2021.2020279. https://pubmed.ncbi.nlm.nih.gov/35086395/
7. Prodan, Andrii, Dzubanovsky, Ihor, Kamyshnyi, Oleksandr, Pidruchna, Svitlana, Voloshyn, Stanislava. 2023. GHRL, LEP, LEPR genes polymorphism and their association with the metabolic syndrome in the Ukrainian population. In Endocrine regulations, 57, 269-278. doi:10.2478/enr-2023-0030. https://pubmed.ncbi.nlm.nih.gov/38127688/
8. Yang, Ming Ming, Wang, Jun, Fan, Jiao Jie, Teng, Yan, Li, Yan-Bo. 2016. Variations in the Obesity Gene "LEPR" Contribute to Risk of Type 2 Diabetes Mellitus: Evidence from a Meta-Analysis. In Journal of diabetes research, 2016, 5412084. doi:10.1155/2016/5412084. https://pubmed.ncbi.nlm.nih.gov/27195302/
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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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