abnormal brain internal capsule morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord (Mammalian Phenotype Ontology, MP_0008128)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008128
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18 gene mutations causing the abnormal brain internal capsule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ANK2 ankyrin 2, neuronal
ARSA arylsulfatase A
ARX aristaless related homeobox
CANX calnexin
CAV1 caveolin 1, caveolae protein, 22kDa
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CLCN2 chloride channel, voltage-sensitive 2
EBF1 early B-cell factor 1
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
FBXO45 F-box protein 45
FZD3 frizzled class receptor 3
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
MAN2C1 mannosidase, alpha, class 2C, member 1
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
TTL tubulin tyrosine ligase
TUBB2B tubulin, beta 2B class IIb