decreased ear pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description visually detectable dilution of pigment present in the outer ear (Mammalian Phenotype Ontology, MP_0011279)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011279
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Genes

9 gene mutations causing the decreased ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
HPS1 Hermansky-Pudlak syndrome 1
HPS5 Hermansky-Pudlak syndrome 5
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
LYST lysosomal trafficking regulator
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor