axonal spheroids Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description focal 10-50 micron diameter swellings of axons, which are sometimes, but not always, terminal endbulbs, and are filled with disorganized neurofilaments, tubules, organelles or multi-lamellar inclusions (Mammalian Phenotype Ontology, MP_0010047)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010047
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Genes

7 gene mutations causing the axonal spheroids phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DOCK3 dedicator of cytokinesis 3
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
GALC galactosylceramidase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PSAP prosaposin