REPOSITORY OF MOUSE MODELS FOR CYTOGENETIC DISORDERS

细胞遗传学疾病小鼠模型库

• 批准号: 10020280
• 负责人: CATHLEEN LUTZ
• 金额: $ 64.49万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-22 至 2020-09-21
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10020280
• 关键词: Aneuploidy; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 21; Communities; Contracts; Cryopreservation; Cytogenetics; Disease; Down Syndrome; Ensure; Genes; Genetic; Human Chromosomes; Human Development; Intellectual functioning disability; Investments; Maintenance; Modeling; Mouse Strains; Mus; National Institute of Child Health and Human Development; Research; Research Personnel; Research Training; Study models; Support Contracts; Synteny; Time; Trisomy; human model; mouse Trisomy 16; mouse Ts65Dn; mouse model; prevent; repository; response

The Intellectual and Developmental Disabilities (IDD) Branch ofand Human Development NICHD sponsors research and research training aimed at preventing and ameliorating intellectual and developmental disabilities .This contract supports a mouse model of Down syndrome . The Repository of Mouse Models for Cytogenetic Disorders (Mouse Repository) began in the 1970s to generate and distribute mouse models for cytogenetic disorders, with special emphasis on Down syndrome (DS; trisomy 21). The creation of mouse models relevant to DS began in the 1970s and continued with the demonstration of genetic synteny between a segment of mouse chromosome 16 (Mmu16) and human chromosome 21 (Hsa21 ), which led to the use of the trisomy 16 mouse (Ts16) as a model for studies relevant to DS. Genes present on Hsa21 were localized to mouse chromosomes 17 and I 0 (Mmu17 and Mmu l 0) as well. Pattial trisomies for a number of syntenic chromosomal segments were generated in the 1980s, under contract to NICHD. One of these partial trisomies, designated Ts65Dn, proved to include approximately 150 genes located in what is considered the "Down syndrome critical region" of Hsa21. Subsequently, these mice were produced and distributed, under an NICHD contract, to investigators approved for receipt of them by NICHD. During the last 22 years, various investigators have generated other models relevant to DS. These include, but are not limited to, TslCje, Ts2Cje, TslRhr, MslRhr, Tel, and others. When these strains and stocks have been made available to the research community, the creation of a central repository has ensured their maintenance on appropriate genetic backgrounds and their distribution to investigators upon request in a timely manner and subsequent to approval by NICHD. Many of these mouse strains are maintained under cryopreservation. In 2010, the NICHD reissued the contract "A Repository of Mouse Models of Cytogenetic Disorders" with a substantial increase in investment to ensure timely access to and increased availability of mouse models for cytogenetic disorders, particularly Ts65Dn, to the research community, and to ensure increased experimental efforts to modify the existing genetic backgrounds for the various strains to increase availability and ease of use by investigators. A substantial number of responses identified the need for increased availability of the mouse models to the research community as a priority issue.

NICHD的智力和发育障碍（IDD）分支和人类发展赞助旨在预防和改善智力和发育障碍的研究和研究培训。 细胞遗传学疾病小鼠模型库（Mouse Repository）始于20世纪70年代，用于生成和分发细胞遗传学疾病的小鼠模型，特别强调唐氏综合征（DS; 21三体）。 与DS相关的小鼠模型的创建始于20世纪70年代，并随着小鼠16号染色体（Mmu 16）和人类21号染色体（Hsa 21）之间的遗传同线性的证明而继续，这导致使用16三体小鼠（Ts 16）作为DS相关研究的模型。 Hsa 21上存在的基因也定位于小鼠染色体17和10（Mmu 17和Mmu 10）。 在20世纪80年代，根据与NICHD的合同，产生了许多同线染色体片段的Pattial三体。 这些部分三体之一，命名为Ts 65 Dn，被证明包括大约150个基因，位于被认为是Hsa 21的“唐氏综合征关键区域”。随后，根据NICHD合同，这些小鼠被生产并分发给NICHD批准接收它们的研究者。 在过去的22年里，各种研究人员已经产生了其他相关的DS模型。 这些包括但不限于TslCje、Ts 2Cje、TslRhr、MslRhr、Tel等。 在向研究界提供这些菌株和种群后，建立一个中央储存库确保了它们保持适当的遗传背景，并确保了在调查人员提出要求时及时将其分发给调查人员，并在得到国家排雷中心的批准后分发给他们。这些小鼠品系中的许多在冷冻保存下维持。2010年，NICHD重新发布了“细胞遗传学疾病小鼠模型库”合同，大幅增加了投资，以确保研究界及时获得并增加细胞遗传学疾病小鼠模型的可用性，特别是Ts 65 Dn，并确保增加实验努力，以修改各种菌株的现有遗传背景，investigators.许多答复指出，需要优先向研究界提供更多的小鼠模型。