| 53357 |
P97819 |
PLPL9_MOUSE |
85/88 kDa calcium-independent phospholipase A2 (CaI-PLA2) (EC 3.1.1.4) (2-lysophosphatidylcholine acylhydrolase) (EC 3.1.1.5) (Group VI phospholipase A2) (GVI PLA2) (Intracellular membrane-associated calcium-independent phospholipase A2 beta) (iPLA2-beta) |
DISRUPTION PHENOTYPE |
Knockout mice represent an appropriate model for studying the pathogenesis of neuroaxonal dystrophy in human neurodegenerative diseases (PubMed:18305254, PubMed:18937505). Mutant mice show neuroaxonal dystrophy and significant motor dysfunction from the age of 50 weeks that progressed to ataxia by 2 years (PubMed:18305254). At 55 weeks they display numerous spheroids located in the axons and synapses throughout central and peripheral nervous system, mostly prominent in the tegmentum of the medulla, the lower pons, and the dorsal horns of the spinal cord. Sciatic nerves have reduced numbers of myelinated fibers indicative of neural degeneration (PubMed:18305254). The neuroaxonal dystrophy is associated with deficient remodeling of the mitochondrial inner membrane and presynaptic membrane of axon terminals (PubMed:21813701). Mutant mice gradually lose weight and die earlier than wild-type littermates (PubMed:18305254). Mutant male mice show reduced fertility (PubMed:18305254). {ECO:0000269|PubMed:18305254, ECO:0000269|PubMed:18937505, ECO:0000269|PubMed:21813701}. |