Gene | Evidence for dose sensitivity | References |
---|---|---|
HGF | Over-expression in retinal pigment epithelium induces retinal detachment | [58] |
MET* | Autosomal dominant Hereditary papillary renal carcinoma is associated with mutations in MET | [59] |
MST1 | None: mouse knockout is without strong phenotype | [60] |
RON | Hemizygous mice (Ron +/-) are highly susceptible to endotoxic shock and are compromised in their ability to downregulate nitric oxide production | [61] |
DLL1 | No report of heterozygous null phenotype nor of overexpression phentype | Â |
NOTCH3* | Autosomal dominant disorder CADASIL owing to mutation in NOTCH3 | [62] |
DLL3 | None: the gene is associated with disease (SCDO1/2) in mutant homozygotes but no report of heterozygote phenotype. | Â |
NOTCH4 | Upregulation of NOTCH4 is associated with mammary tumours | See OMIM 164951 |
FGF1 | None: no phenotype in Fgf1 homozygous knockouts | [63] |
FGFR3* | Autosomal dominant disorder ACH associated with mutation in FGFR3 | See OMIM 134934 |
FGF2 | Over-expression promotes bone growth | [64] |
FGFR4 | None: knockout homozygotes have no obvious phenotype | [65] |
FGF8 | Over-expression is associated with carcinogenesis | [66] |
FGFR1* | Autosomal dominant Pfeiffer syndrome is owing to mutations in FGFR1 | [67] |
FGF17 | None: heterozygote knockout has no phenotype | [68] |
FGFR2* | Numerous autosomal dominant disorders associated with FGFR2 | See OMIM 176943 |
FGF18 | Dose sensitive liver and small intestine development | [69] |