Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome

Mice without hepatocyte nuclear factor 1 (HNF1) die during weaning after a progressive wasting syndrome and enlarged kidneys. The transcription rate of genes such as albumin and alpha-1-antitrypsin is decreased while the gene coding for phenylalanine hydroxylase is totally inactivated, causing phenylketonuria. These mice also have Fanconi syndrome because of the malfunction of the renal proximal tube.