abnormal keratohyalin granule morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function (Mammalian Phenotype Ontology, MP_0009602)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009602
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7 gene mutations causing the abnormal keratohyalin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
FLG filaggrin
KRT10 keratin 10, type I
LBR lamin B receptor
PPARA peroxisome proliferator-activated receptor alpha
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
TTC7A tetratricopeptide repeat domain 7A