| 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 |
| Similar Terms | |
| Downloads & Tools |
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 |
