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Trisomy 8: a common finding in mouse embryonic stem (ES) cell lines

Young Mi Kim1, Ji-Yun Lee13, Lijun Xia2, John J Mulvihill1 and Shibo Li1*

Author Affiliations

1 Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA

2 Cardiovascular Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA

3 Department of Pathology, Korea University, Seoul, 136-705, South Korea

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Molecular Cytogenetics 2013, 6:3  doi:10.1186/1755-8166-6-3

Published: 16 January 2013



Obtaining a germ cell line is one of the most important steps in developing a transgenic or knockout mouse with a targeted mutated gene of interest. A common problem with this technology is that embryonic stem (ES) cells often lack, or are extremely inefficient at, germ line transmission.


To determine whether chromosomal anomalies are correlated with inefficient ES cell germ line transmission, we examined 97 constructed ES cell lines using conventional cytogenetic analysis, and fluorescence in situ hybridization (FISH). Chromosomal abnormalities occurred in 44 (45%) out of the 97 specimens analyzed: 31 specimens had trisomy 8 or mosaic trisomy 8, eight specimens had partial trisomy 8 resulting from unbalanced translocations, and five specimens had other chromosomal anomalies.


Our data suggest that chromosomal analysis is an important tool for improving the yield and quality of gene targeting experiments.

Mouse ES cells; Chromosomal aberrations; FISH; Mosaicism