201901 Repository of Mouse Models for Cytogenetic Disorders

Program seeks Council approval for an initiative titled “Repository of Mouse Models for Cytogenetic Disorders.” The goal of this initiative is to ensure that mouse models of Down syndrome and other relevant chromosomal disorders are available to NIH-approved scientific investigators in a timely manner.

This initiative will support a repository for the production, maintenance, and distribution of aneuploid mice, with primary emphasis on murine models of human trisomy 21 (Down syndrome, DS). It is timely and necessary because it is difficult to develop murine models that faithfully replicate the human condition given the challenge of developing a mouse with trisomy for the ~ 250 genes on human chromosome 21. Moreover, these mice are difficult to breed and maintain, requiring a dedicated facility devoted to their husbandry and distribution, and new models have been or are being developed that will require a similar production strategy. In addition, as the new INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE (INCLUDE) down syndrome (DS) initiative is launched, we anticipate increased demand from investigators proposing projects related to Component 1 of INCLUDE, which focuses on targeted, high risk-high reward, basic science studies in DS that may include explorations of chromosome silencing, immune system dysregulation, and epigenetic/metabolomic/ transcriptomic profiling in model organism systems.

The goals of this initiative are to provide a central repository of mouse stocks of cytogenetic disorders for maintenance and distribution to the research community in a timely manner, incorporate recent models that will more closely model the human condition, provide comprehensive phenotyping of existing and new strains, supply mice for investigators funded under the INCLUDE initiative, and develop a high-throughput drug testing pipeline for DS therapeutics.

This proposed concept aligns with the NICHD Vision and IDDB priority areas of understanding the etiology of IDDs including Down syndrome and developing preclinical outcome measures.

Program Contact

Melissa Parisi 
Intellectual Developmental Disabilities Branch (IDDB)

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