abnormal synaptic bouton morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the knoblike enlargements along the course of axons, or more commonly at the distal terminations of axons which are specialized for the release of neurotransmitters (Mammalian Phenotype Ontology, MP_0008571)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008571
Similar Terms
Downloads & Tools

Genes

8 gene mutations causing the abnormal synaptic bouton morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
C1QA complement component 1, q subcomponent, A chain
CHP1 calcineurin-like EF-hand protein 1
KLK8 kallikrein-related peptidase 8
LDLR low density lipoprotein receptor
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SNPH syntaphilin
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)