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Publication : Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media.

First Author  Bhutta MF Year  2013
Journal  Mamm Genome Volume  24
Issue  11-12 Pages  439-45
PubMed ID  24068166 Mgi Jnum  J:201811
Mgi Id  MGI:5515824 Doi  10.1007/s00335-013-9475-x
Citation  Bhutta MF, et al. (2013) Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media. Mamm Genome 24(11-12):439-45
abstractText  Chronic otitis media (OM) is common in Down syndrome (DS), but underlying aetiology is unclear. We analysed the entire available mouse resource of partial trisomy models of DS looking for histological evidence of chronic middle-ear inflammation. We found a highly penetrant OM in the Dp(16)1Yey mouse, which carries a complete trisomy of MMU16. No OM was found in the Dp(17)1Yey mouse or the Dp(10)1Yey mouse, suggesting disease loci are located only on MMU16. The Ts1Cje, Ts1RhR, Ts2Yah, and Ts65Dn trisomies and the transchomosomic Tc1 mouse did not develop OM. On the basis of these findings, we propose a two-locus model for chronic middle-ear inflammation in DS, based upon epistasis of the regions of HSA21 not in trisomy in the Tc1 mouse. We also conclude that environmental factors likely play an important role in disease onset.
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