Table 1.
Pancreatic defects are penetrant phenotypes in the ciliopathies
| Gene | Species | Phenotype | Reference |
|---|---|---|---|
| Pkd1 truncation | Mouse | Pancreatic cysts | Lu et al., 1997 |
| Pkhd1 (PCK) | Rat | Pancreatic duct dilation | Lager et al., 2001 |
| Inv | Mouse | Pancreatic cysts | Morgan et al., 1998 |
| Ift88 (Tg737) | Mouse | Pancreatic duct dilation or elevated insulin upon POMC-specific deletion | Cano et al. 2004, Davenport et al., 2007 |
| Kif3A (pancreas specific) | Mouse | Cyst formation, aberrant ductal morphology, and extensive fibrosis | Cano et al., 2006 |
| Hnf6 | Mouse | PKD and pancreatic cysts | Pierreux et al., 2006 |
| Alms1 (Fat Aussie) | Mouse | Islet cysts | Arsov et al. 2006 |
| Rfx3 | Mouse | Altered pancreatic endocrine cell differentiation | Ait-Lounis et al., 2007 |
| Pkhd1 (del2/del2) | Mouse | Pancreatic cysts and some pancreatic enlargement | Woollard et al. 2007 |
| Kif3A (POMC-Cre) | Mouse | Elevated insulin | Davenport et al., 2007 |
| Pkhd1 (del4/del4) | Mouse | Pancreatic cysts | Gallagher et al., 2008 |
| NPHP3 | Human | Pancreatic cysts | Bergmann et al., 2008 |
| Pkhd1 | Rat | Pancreatic duct dilation | Yi et al., 2012 |
| VHL | Human | Pancreatic cysts and pancreatic neuroendocrine tumors | van Asselt et al., 2013 |
| NEK8/NPHP9 | Human | Enlarged pancreas | Frank et al., 2013 |
Analysis of mouse loss of function mutant models of ciliary genes reveal aberrations in pancreatic function.