# REPOSITORY OF MOUSE MODELS FOR CYTOGENETIC RESEARCH

> **NIH NIH N01** · JACKSON LABORATORY · 2024 · $650,000

## Abstract

The Intellectual and Developmental Disabilities (IDD) Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) sponsors research and research training aimed  at  preventing  and  ameliorating  intellectual  and  developmental  disabilities.  The program supports , biomedical, biobehavioral, behavioral, and translational research in etiology, pathophysiology, screening, prevention, treatment, and epidemiology of these disorders.
Down syndrome (DS; trisomy 21) is one of the most common genetic causes of intellectual disability, affecting ~1 in 700 babies in the U.S. each year (1, 2), or an estimated total of ~250,000 Americans living with Down syndrome in 2008 (3). Caused by the presence of 3 copies of chromosome 21 in most individuals, this condition is characterized by multiple organ system involvement in addition to intellectual disability. The molecular and cellular bases of intellectual disability due to Down syndrome have been a topic of intensive study, and murine models of the disease exist.
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.  With the subsequent genetic dissection of both mouse and human genomes, other genes present on Hsa21 were localized to mouse chromosomes 17 and 10 (Mmu17 and Mmu10) as well.   Partial 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 30 years, various investigators have generated other models relevant to DS.  These include, but are not limited to, Ts1Cje, Ts2Cje, Ts1Rhr, Ms1Rhr, Tc1, 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,...

## Key facts

- **NIH application ID:** 11194923
- **Project number:** 75N94020C00009-P00007-9999-1
- **Recipient organization:** JACKSON LABORATORY
- **Principal Investigator:** CATHLEEN LUTZ
- **Activity code:** N01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $650,000
- **Award type:** —
- **Project period:** 2020-09-22 → 2025-09-21

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11194923

## Citation

> US National Institutes of Health, RePORTER application 11194923, REPOSITORY OF MOUSE MODELS FOR CYTOGENETIC RESEARCH (75N94020C00009-P00007-9999-1). Retrieved via AI Analytics 2026-06-01 from https://api.ai-analytics.org/grant/nih/11194923. Licensed CC0.

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