TABLE 2.
Organ of interest | Mutation | Species | Associated human disease |
Kidney | Pkhd1L | X. Laevis | Autosomal Recessive Polycystic Kidney Disease |
pkd2.L | X. Laevis | Polycystic Kidney Disease 2 | |
wdpcp.L | X. Laevis | Bardet-Biedl syndrome (ciliopathic genetic disorder that affects many parts of body including kidney failure) | |
eya1.L | X. Laevis | Branchio-oto-renal syndrome | |
Heart | tbx5 | X. Tropicalis | Hold-Oram syndrome (cardiac-limb syndrome) |
gdf1 | X.Tropicalis | Double outlet right ventricle, tetralogy of Fallot, Right atrial isomerism | |
Imna | X. Tropicalis | dilated cardiomyopathy | |
myh6 | X.Tropicalis | familial hypertrophic cardiomyopathy, dilated cardiomyopathy, atrial septal defect | |