Cytogenetic and Down Syndrome Models Resource

Cytogenetic and Down syndrome models resource

The Jackson Laboratory maintains and distributes chromosome-aberration stocks that provide mouse models for Down syndrome, as well as the study of chromosomal aneuploidy.   With over 100 strains for the study of Down Syndrome and other chromosomal anomalies, the JAX® Mice Repository houses the largest collection in the United States. Each mouse autosome is present in at least two Robertsonian chromosomes,so that these stocks can be used to generate specific aneuploidies for each of the 19 mouse autosomes.  

Obtaining mice

The cytogenetics and Down syndrome resource is funded by an NICHD/NIH contract; first-time users are required to fill out a request form for mice. Please complete and submit the request form to NIH.  Your order must be placed with our Customer Service Department by phone at 1-800-422-MICE or (207) 288-5845, or by fax to 207-288-6150.

How to cite this resource

This resource is supported by NICHD contract #275201000006C-3-0-1. Please reference this funding from the National Institute of Child Health and Human Development/NIH in citations acknowledging use of the resource.

Commonly used strains

Strains available only from the cytogenetics and Down syndrome models repository are listed in the table below. Stock numbers link to the strain datasheet, which includes information on aberration details, genotyping protocols, pricing, and links to useful references.

Down syndrome (DS) is caused by trisomy (3 copies) of some or all of human chromosome (Chr) 21. The majority of human Chr 21 genes are conserved in mouse Chr 16, with additional conserved regions on mouse Chrs 10 and 17. Our most widely used DS strains are the Ts65Dn models (symbolized as Ts(1716 )65Dn). Ts65Dn mice are trisomic for about two thirds of the human Chr 21 genes conserved in mouse Chr 16. Mice survive to adulthood and have many, though not all, of the features of people with DS. The Ts(1716)65Dn trisomy is available in two different strains (Stock Numbers 001924 and 005252).

Stock No. 001924 is the original trisomic Ts(1716)65Dn strain. However, Pde6brd1, the recessive retinal degeneration 1 mutation, is segregating in this stock; Pde6brd1 homozygotes are blind. Stock No. 005252 is an alternative strain, with a virtually identical genetic background except that it is wild-type for Pde6b, the result of continuous backcrossing to (C57BL/6JEiJ x C3Sn.BLiA-Pde6b+/DnJ)F1/J.


Aberration Stock # Strain Status
Ts(1716)65Dn 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ Live colony
Ts(1716)65Dn 001924 B6EiC3Sn-a/A-Ts(1716)65Dn Live colony
Rb(12.Ts171665Dn)2Cje 004850 B6EiC3Sn-Rb(12.Ts171665Dn)2Cje/CjeDnJ Live colony
Dp(16Lipi-Zbtb21)1Yey 013530 B6.129S7-Dp(16Lipi-Zbtb21)1Yey/J Live colony
Tc(HSA21)1Tyb 0010801 B6129S-Tc(HSA21)1TybEmcf/J Live colony
N/A (control) N/A Wild-type from the same colonies as above Live colony
N/A (mate for 001924 or 004850) 001875 B6EiC3SnF1/J Live colony
N/A (mate for 005252) 003647 (C57BL/6JEiJ x C3Sn.BLiA-Pde6b+/DnJ)F1/J Live colony
N/A (mate for 010801) 012868 B6129S8F1/J Live colony
Ts(16C4-tel)1Cje  004861 B6EiC3Sn-Ts(1216C-tel)1Cje Cryopreserved - Ready for Recovery
Rb(6.16)24Lub 00885 STOCK Rb(6.16)24Lub Cryopreserved - Ready for Recovery
Rb(16.17)Bnr 000615 STOCK Rb(16.17)7Bnr Cryopreserved - Ready for Recovery
Dp(10Prmt2-Pdxk)2Yey 013529 B6;129-Dp(10Prmt2-Pdxk)2Yey/J Cryopreserved - Ready for Recovery
Dp(17Abcg1-Rrp1b)3Yey 013531 B6;129-Dp(17Abcg1-Rrp1b)3Yey/J Cryopreserved - Ready for Recovery