REPOSITORY OF MOUSE MODELS FOR CYTOGENETIC DISORDERS

NICHD的智力和发育障碍(IDD)分部赞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的小鼠模型。 小鼠细胞遗传学疾病模型资料库(Mouse Repository)始于20世纪70年代，目的是产生和分发细胞遗传学紊乱的小鼠模型，特别强调唐氏综合症(DS；21三体)。与DS相关的小鼠模型的建立始于20世纪70年代，随后证明了小鼠16号染色体(Mmu16)和人类21号染色体(Hsa21)之间的遗传同步性，这导致了16三体小鼠(TS16)作为与DS相关的研究模型的使用。Hsa21上的基因也定位于小鼠17号和I0号染色体(Mmu17和MMU L 0)。根据NICHD的合同，许多同线染色体片段的配对三体是在20世纪80年代产生的。这些部分三体中的一个被命名为Ts65Dn，被证明包括大约150个基因，位于Hsa21的“唐氏综合症临界区”。随后，根据NICHD的合同，这些小鼠被生产并分发给NICHD批准接收它们的调查人员。 在过去的22年里，不同的研究人员建立了其他与DS相关的模型。这些包括但不限于TslCje、Ts2Cje、TslRhr、MslRhr、TEL等。当这些菌株和种群提供给研究界时，中央储存库的建立确保了它们在适当的遗传背景下保持不变，并在提出请求并得到NICHD批准后及时分发给调查人员。这些小鼠品系中的许多都被保存在超低温保存中。2010年，NICHD重新发布了“细胞遗传学疾病小鼠模型资料库”合同，大幅增加了投资，以确保研究界及时获得和增加细胞遗传学疾病小鼠模型，特别是Ts65Dn，并确保加强实验工作，修改各种菌株的现有遗传背景，以增加研究人员的可得性和易用性。大量答复指出，需要向研究界提供更多的小鼠模型，这是一个优先问题。

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.