| 19302 |
P55098 |
PEX2_MOUSE |
Peroxisome biogenesis factor 2 (EC 2.3.2.27) (EC 2.3.2.36) (Peroxin-2) (Peroxisomal membrane protein 3) (Peroxisome assembly factor 1) (PAF-1) |
DISRUPTION PHENOTYPE |
Mice in a C57BL/6J x 129/Sv strain background die several hours after birth (PubMed:9382874). Mutant mice do not feed and are hypoactive and markedly hypotonic (PubMed:9382874). Cells show defects in peroxisomes, characterized by an accumulation of very long chain fatty acids in plasma and deficient erythrocyte plasmalogens (PubMed:9382874). A significant proportion of mice in a Swiss Webster x 129/SvEv strain background survive 7-14 postnatal days (PubMed:12746876). Surviving mice display defects in cerebellar growth, characterized by a reduced granule neuron population, abnormal Purkinje cell dendrite development (PubMed:12746876). Peroxisome deficiency increases cell death in the developing cerebellum (PubMed:12746876). Defects in peroxisomes cause impaired hepatic cholesterol homeostasis (PubMed:14673138, PubMed:19110480). Peroxisome deficiency activates hepatic endoplasmic reticulum stress pathways, such as the integrated stress response (ISR), leading to dysregulation of the endogenous sterol response mechanism and subsequent SREBF2 activation (PubMed:19110480, PubMed:22441164). Conditional deletion in brain of adult mice leads to impaired BDNF signaling, resulting in memory defects (PubMed:33163488). {ECO:0000269|PubMed:12746876, ECO:0000269|PubMed:14673138, ECO:0000269|PubMed:19110480, ECO:0000269|PubMed:22441164, ECO:0000269|PubMed:33163488, ECO:0000269|PubMed:9382874}. |