A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, Stone EM, Sheffield VC.
Davis RE, et al. Among authors: weiss rm.
Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7. doi: 10.1073/pnas.0708571104. Epub 2007 Nov 21.
Proc Natl Acad Sci U S A. 2007.
PMID: 18032602
Free PMC article.