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Background  Bardet–Biedl Syndrome (BBS) is a genetically heterogeneous ciliopathy with clinical cardinal features including retinal degeneration, obesity and renal dysfunction. To date, 20 BBS genes have been identified with  BBS10  being a major  BBS  gene found to be mutated in almost 20 percent of all BBS patients worldwide. It codes for the BBS10 protein which forms part of a chaperone complex localized at the basal body of the primary cilium. Renal dysfunction in BBS patients is one of the major causes of morbidity in human patients and is associated initially with urinary concentration defects related to water reabsorption impairment in renal epithelial cells. The aim of this study was to study and compare the impact of a total  Bbs10  inactivation ( Bbs10  − / − ) with that of a specific renal epithelial cells inactivation ( Bbs10    fl/fl   ; Cdh16 - Cre  + / − ).    Results  We generated the  Bbs10  − / −  and Bbs10    fl/fl   ; Cadh16 - Cre  + / −  mouse model and characterized them.  Bbs10  − / −  mice developed obesity, retinal degeneration, structural defects in the glomeruli, polyuria associated with high circulating arginine vasopressin (AVP) concentrations, and vacuolated, yet ciliated, renal epithelial cells. On the other hand, the  Bbs10    fl/fl   ; Cadh16 - Cre  + / − mice displayed no detectable impairment.    Conclusions  These data highlight the importance of a systemic  Bbs10  inactivation to trigger averted renal dysfunction whereas a targeted absence of BBS10 in the renal epithelium is seemingly non-deleterious.    Electronic supplementary material  The online version of this article (doi:10.1186/s13630-015-0019-8) contains supplementary material, which is available to authorized users.

cilia

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice