REPOSITORY OF MOUSE MODELS FOR CYTOGENETIC DISORDERS

NICHD 的智力和发育障碍 (IDD) 部门和人类发展部资助旨在预防和改善智力和发育障碍的研究和研究培训。该合同支持唐氏综合症小鼠模型。 细胞遗传性疾病小鼠模型存储库（Mouse Repository）于 20 世纪 70 年代开始生成和分发细胞遗传性疾病小鼠模型，特别侧重于唐氏综合症（DS；21 三体）。 DS 相关小鼠模型的创建始于 20 世纪 70 年代，并不断证明小鼠 16 号染色体 (Mmu16) 片段和人类 21 号染色体 (Hsa21) 之间的遗传同线性，这导致使用 16 三体小鼠 (Ts16) 作为 DS 相关研究的模型。 Hsa21 上存在的基因也定位于小鼠 17 号和 I 0 号染色体（Mmu17 和 Mmu 1 0）。 许多同线染色体片段的 Pattial 三体性是在 20 世纪 80 年代根据 NICHD 的合同产生的。 其中一个被命名为 Ts65Dn 的部分三体性被证明包含大约 150 个基因，这些基因位于被认为是 Hsa21 的“唐氏综合症关键区域”。随后，根据 NICHD 合同，这些小鼠被生产并分发给 NICHD 批准接收的研究人员。 在过去的 22 年里，不同的研究人员已经生成了与 DS 相关的其他模型。 这些包括但不限于 TslCje、Ts2Cje、TslRhr、MslRhr、Tel 等。 当这些菌株和库存已提供给研究界时，中央存储库的创建确保了它们在适当的遗传背景下得到维护，并根据要求及时分发给研究人员并随后得到 NICHD 的批准。许多这些小鼠品系都处于冷冻保存状态。 2010年，NICHD重新签发了“细胞遗传性疾病小鼠模型库”合同，并大幅增加了投资，以确保研究界能够及时获取和提高细胞遗传性疾病小鼠模型（特别是Ts65Dn）的可用性，并确保加大实验力度，修改各种品系的现有遗传背景，以提高研究人员的可用性和易用性。大量的回复将增加小鼠模型对研究界的可用性作为优先问题。

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.