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Recent activity of mouse metabolic phenotyping service at Korea Mouse Phenotyping Center (KMPC)
Hye Sun Go,Ji Min Choi,Seul Gi Yoon,Su In Jang,Soo Jin Son,Da In On,Hyun A Noh,Mi Young Kim,Il Yong Kim,Je Kyung Seong 한국실험동물학회 2021 한국실험동물학회 학술발표대회 논문집 Vol.2021 No.7
To understand the function of individual genes is also a key information in developing new treatment techniques. Even though a couple of genetically engineered mouse (GEM) models has been generated, still precising determination of mouse phenotype is not easy. Precising mouse phenotyping is one of the effective way leading to discovery gene function. International Mouse Phenotyping Consortium (IMPC) has established mega database of mouse phenotyping data from different institutes across the world based on generalized platform. However more precised mouse phenotyping is still needed. In order to meet the need for more detailed phenoyping in mouse, Korea Mouse Phenotyping Center (KMPC), nation-wide program for mouse production and phenotyping in Korea has been establishing several pipelines for disease-specific mouse phenotyping to support the mouse research. Here we introduce mouse metabolic and exercise phenotyping services, as well as the other services of mouse research such as providing genetically engineered mouse information, producing selling genetically engineered mice, and managing resource quality so that researchers can easily utilize the research infrastructure. Metabolic characterization in mouse is one of key factors for understanding the pathogenesis of obesity, type 2 diabetes and insulin resistance. KMPC has been providing mouse metabolic phenotyping including high fat diet, exercise and cold challenges. Multiple parameter including energy expenditure (EE), O2/CO2 consumption (RER), heat generation and activity has been provided with histology service and body composition. Also temperature can be measured during metabolic chamber with telemetric system. Here we summarized mouse metabolic phenotyping services at KMPC.
Application of Cidea reporter mice, brown adipogenesis in iWAT
Jin Kyung Kim,Hye Sun Go,Sol Pin Kim,Il Yong Kim,Yun Hee Lee,Seung Hyun Oh,Ho Lee,Je Kyung Seong 한국실험동물학회 2021 한국실험동물학회 학술발표대회 논문집 Vol.2021 No.7
Obesity is one of the most serious diseases in modern society as energy intake and energy expenditure make imbalance. As treating the obesity becomes global issue, a number of treatments have been proposed and exercise is getting attention as a one way. It is well known that exercise has numerous benefits that affect whole body metabolism. Especially it can induce ‘browning’ of white adipocyte in adipose tissue. Cidea (Cell Death Inducing DFFA Like Effector A) is one of the disease associated genes including metabolic disorder and adipogenesis. It has been widely used for brown adipogenesis marker. We developed Cidea-dual reporter mouse (Cidea-P2A-Luc2-T2A-tdTomato, Luciferase/tdTomato) for applying in vivo tracing and measuring brown adipogenesis. Cidea-dual reporter mouse performed voluntary wheel running for 8 weeks. CL was injected intraperitoneally (1 mg/kg of body weight/day) for 3 days to Cidea-reporter mouse for inducing brown adipogenesis. Brown adipogenesis in Cidea-dual reporter mouse was measured not only by optical imaging system but also by histology. As a result of exercise, browning occurred depots in white adipose tissue become luminescent. We confirmed that exercise and CL can induce brown adipogenesis with in vivo reporter system. Cidea-dual reporter mouse will be widely used for detecting brown adipogenesis.
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo,Ja Hye Kim,Ja Hyang Cho,Gu Hwan Kim,Eul-Ju Seo,Beom Hee Lee,Jin Ho Choi,Han-Wook Yoo 대한소아청소년과학회 2016 Clinical and Experimental Pediatrics (CEP) Vol.59 No.1
Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.