abnormal foot pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the coloration of the foot due to changes in the amount, shape, or distribution of cells producing pigment (Mammalian Phenotype Ontology, MP_0009379)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009379
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Genes

21 gene mutations causing the abnormal foot pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
EDNRB endothelin receptor type B
EGFR epidermal growth factor receptor
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HPS5 Hermansky-Pudlak syndrome 5
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KRT2 keratin 2, type II
LYST lysosomal trafficking regulator
MCOLN3 mucolipin 3
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MITF microphthalmia-associated transcription factor
MYO5A myosin VA (heavy chain 12, myoxin)
RPL27A ribosomal protein L27a
RPS19 ribosomal protein S19
RPS20 ribosomal protein S20
SOX10 SRY (sex determining region Y)-box 10
TP53 tumor protein p53