Table 1.

Renal and extrarenal phenotypes of murine models of Bardet-Biedl syndrome

Murine models	Extrarenal phenotypes	Major renal histologic features	Renal tubular epithelial cells’ PC	Reference(s)
Bbs4−/− mice	Obesity, retinal degeneration, and hypertension	Not described	The PC is present but has different length than control mice (shorter since day 7 of culture but longer between days 7 and 10) on immunocytochemistry and TEM analysis	Mokrzan et al.50 and Mykytyn et al.51
Bbs4−/− mice	Obesity, metabolic syndrome, anosmia, perinatal lethality, male infertility, hydrometrocolpos, and neural tube defects	Tubular cystic lesions (data not shown)	Not described	Eichers et al.52
Bbs2−/− mice	Obesity, retinal degeneration, liver lipids accumulation, and male infertility	Inflammatory infiltration and multiple cysts on hematoxylin and eosin staining of 5-mo-old mice	The PC is present but appears tapered compared with WT on TEM analysis	Nishimura et al.38
Bbs6−/− mice	Obesity with hyperphagia and decrease of locomotory activity, hypertension, anosmia, male infertility, and social dominance defects	Not described	The PC is normal in number and size on TEM analysis in young mice	Fath et al.53
Bbs4−/− mice	Previously described by Mykytyn et al.51	Inflammatory infiltration in 12-wk-old mice and later onset of glomerular cysts	Not described	Guo et al.54
Bbs2−/− mice	Previously described by Nishimura et al.38	Inflammatory infiltration with no cysts in 12-wk-old and 40-wk-old mice	Not described	Guo et al.54
Bbs1M390R/M390R mice	Obesity, elevated blood levels of leptin, retinal degeneration, male infertility, ventriculomegaly, thinning of cerebral cortex, reduction in size of the corpus striatum and hippocampus, and high heart rates without hypertension	Absence of renal cysts (data not shown)	Not described	Davis et al.55
Bbs7−/− mice	Obesity, hyperleptinemia, retinal degeneration, ventriculomegaly, thinning of cerebral cortex, and reduction in size of the corpus striatum and hippocampus	No cystic lesions on histologic analysis	Normal in number and size on immunofluorescence studies	Zhang et al.56
Bbs3−/− mice	Increase of fat mass without overt obesity, retinal degeneration, hydrocephalus, hypertension, and high heart rates	Not described	Normal in number and size on immunofluorescence studies	Zhang et al.57
Bbs12−/− mice	Obesity with hyperphagia, hyperleptinemia, enhanced insulin sensitivity, and retinal degeneration	No detectable structural abnormalities on toluidine blue staining in 16-wk-old mice	Not described	Marion et al.58
Bppi10−/− mice	Obesity with hyperphagia, retinal degeneration, and male infertility	Not described	Not described	Loktev and Jackson59
Bbs10−/− mice	Obesity, hyperleptinemia, hyperphagia, and retinal degeneration	Reduction of glomerular basement membrane thickness, absence of primary and secondary podocyte structures, and intracytoplasmic inclusions in 12-wk-old mice	Normal in number and size on TEM analysis	Cognard et al.60
Bbs10fl/fl; Cadh16-Cre+/−	Absent for molecular strategy	No abnormalities on TEM analysis in 12-week-old mice	Normal in number and size on TEM analysis	Cognard et al.60

PC, primary cilia; TEM, transmission electron microscopy; WT, wild type.