| 19305 |
O09012 |
PEX5_MOUSE |
Peroxisomal targeting signal 1 receptor (PTS1 receptor) (PTS1R) (PTS1-BP) (PXR1P) (Peroxin-5) (Peroxisomal C-terminal targeting signal import receptor) (Peroxisome receptor 1) |
DISRUPTION PHENOTYPE |
Liver-specific knockout mice display a growth retardation from the third postnatal week resulting in a 30% to 40% lower body weight than control mice at the age of 7 weeks (PubMed:15732085). Thereafter, mice tend to catch up in growth, and by 3 months their weight is not different from control mice (PubMed:15732085). Throughout this period, the mice look healthy, are fertile and liver function is unaffected (PubMed:15732085). However, 10-week-old mutant mice display a severe hepatomegaly due to hypertrophic and hyperplastic hepatocytes (PubMed:15732085). Mutant mice survive but develope extensive liver tumors from 12 months on (PubMed:15732085). Peroxisomes are absent in mutant hepatocytes and multiple ultrastructural alterations are noticed, smooth endoplasmic reticulum proliferation, and accumulation of lipid droplets and lysosomes (PubMed:15732085). Most prominent is the abnormal structure of the inner mitochondrial membrane (PubMed:15732085). This is accompanied by severely reduced activities of complex I, III, and V and a collapse of the mitochondrial inner membrane potential (PubMed:15732085). Liver-specific knockout mice display severely impaired oxidation of 2-methylhexadecanoic acid, the bile acid intermediate trihydroxycholestanoic acid (THCA), and tetradecanedioic acid (PubMed:17442273). In contrast, mitochondrial beta-oxidation rates of palmitate are doubled (PubMed:17442273). Lens-specific knockout mice develop cataracts (PubMed:33389129). {ECO:0000269|PubMed:15732085, ECO:0000269|PubMed:17442273, ECO:0000269|PubMed:33389129}. |