abnormal cerebellar granule cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the small neurons of the cerebellar granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites (Mammalian Phenotype Ontology, MP_0004098)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004098
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Genes

32 gene mutations causing the abnormal cerebellar granule cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
APC2 adenomatosis polyposis coli 2
ASTN1 astrotactin 1
ATM ATM serine/threonine kinase
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CNTN1 contactin 1
CSTB cystatin B (stefin B)
GM2A GM2 ganglioside activator
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
LGI1 leucine-rich, glioma inactivated 1
LYST lysosomal trafficking regulator
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NR1D1 nuclear receptor subfamily 1, group D, member 1
PAX6 paired box 6
PDYN prodynorphin
PLXNA2 plexin A2
PLXNB2 plexin B2
POMK protein-O-mannose kinase
POU1F1 POU class 1 homeobox 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PURA purine-rich element binding protein A
RORA RAR-related orphan receptor A
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
TNIK TRAF2 and NCK interacting kinase
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)