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

Mahmood F Bhutta, Michael T Cheeseman, Yann Herault, Yuejin E Yu, Steve D M Brown

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
JournalMammalian Genome
VolumeE-pub 26 September
Early online date26 Sep 2013
DOIs
Publication statusPublished - 26 Sep 2013

Keywords

  • Anatomy
  • Cell biology
  • Zoology

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