abnormal axon initial segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs (Mammalian Phenotype Ontology, MP_0010733)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010733
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1 gene mutations causing the abnormal axon initial segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
SPTAN1 spectrin, alpha, non-erythrocytic 1