abnormal agouti pigmentation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description amount and distribution of yellow pigment (phaeomelanin) relative to black or brown pigment (eumelanin) is variably increased or decreased compared with a wild-type agouti pattern resulting in a range of coat color from yellow to almost black (Mammalian Phenotype Ontology, MP_0012076)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012076
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19 gene mutations causing the abnormal agouti pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ASIP agouti signaling protein
ATRN attractin
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CUX1 cut-like homeobox 1
DRD2 dopamine receptor D2
EDA ectodysplasin A
EDAR ectodysplasin A receptor
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MITF microphthalmia-associated transcription factor
OCA2 oculocutaneous albinism II
PEPD peptidase D
POMC proopiomelanocortin
SOX18 SRY (sex determining region Y)-box 18
SOX2 SRY (sex determining region Y)-box 2
TMEM79 transmembrane protein 79
TP53 tumor protein p53