| 18634 |
P97865 |
PEX7_MOUSE |
Peroxisomal targeting signal 2 receptor (PTS2 receptor) (Peroxin-7) |
DISRUPTION PHENOTYPE |
Mice were born alive, but display a variable degree of dwarfism and hypotonia with decreased motility, hampering their feeding (PubMed:12915479). Perinatal lethality is frequent, although some mice survive beyond 18 months (PubMed:12915479). In the intermediate zone of the developing cerebral cortex, increased neuronal density is observed (PubMed:12915479). Increased neuronal density is caused by defects in neuronal migration (PubMed:12915479). Mice also show defects in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae (PubMed:12915479). Cells display normal peroxisome assembly, but show impaired peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:12915479). Biochemically, cells show severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids (PubMed:12915479). {ECO:0000269|PubMed:12915479}. |