*5.2. BBS7*

An NHP model of Bardet–Biedl syndrome has been recently described. A mutation in exon 3 of the *Bbs7* gene c.160delG (p.Ala54GlnfsTer18) that is predicted to produce a truncated non-functional protein was identified. As with BBS4, BBS7 is involved in cilia function. Typically in humans, mutations in BBS genes cause a syndromic condition. The a ffected NHPs had several features of BBS, including retinal atrophy, which was most severe centrally; the a ffected animals had smaller brains, renal disease, and the males had small testes. This is the first described model of BBS in NHP and shares many characteristics with BBS patients with truncating mutations [3].
