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. 2014 Oct 23;10(10):e1004705. doi: 10.1371/journal.pgen.1004705

Table 1. Genes identified in the primary phenotypic screen with cutaneous defects.

Gene Protein Expression Biological Function Skin Function Primary Phenotypic Features Skin Associated MP Terms
Krt76 Keratin 76 palate, paw pad, oral epithelium, fore stomach intermediate filament, cytoskeleton, structural molecule activity palatal keratin behavior, integument MP:0001510 - abnormal coat appearance MP:0010179 - rough coat MP:0000416 - sparse hair MP:0000575 - dark foot pads
Lrig1 leucine-rich repeats and immunoglobulin-like domains 1 most tissues including skin Integral to membrane, tumor suppressor Marker of hair follicle junctional zone stem cells adipose, growth/size, hearing/vestibular/ear, homeostasis, immune, integument, limbs/digits/tail, skeleton, vision/eye MP:0001191 - abnormal skin condition MP:0001192 - scaly skin
Myo5a Myosin VA brain, cartilage, pituitary gland, spinal cord, urinary system ATP-dependant motor protein, actin filament based movement melanocyte differentiation, pigmentation integument, mortality/aging, pigmentation MP:0000371 - abnormal coat/hair pigmentationMP:0002075 - diluted coat color
Myo6 Myosin V1 cochlear hair cells* sensory perception of sound, auditory receptor cell differentiation, signal transduction unknown behavior, integument, skeletal, homeostasis/metabolism, immune MP:0000367 - abnormal coat/hair morphology MP:0000418 - localized hair loss
Mysm1 Histone H2A deubiquitinase most tissues including skin histone deubiquitination, postivie regulator of transcription unknown adipose, behavior, cellular, craniofacial, growth/size, hematopoietic, homeostasis, immune, integument, limbs/digits/tail, mortality/aging, other, pigmentation, skeleton, vision/eye MP:0000373 - belly spot MP:0000574 - abnormal foot pad morphology MP:0000575 - dark foot pads
Nsun2 NOL1/NOP2/Sun domain family member 2 ubiquitous RNA methyltransferase, cell cycle, cell division Hair follicle stem cell self-renewal adipose, behavior, craniofacial, growth/size, hematopoietic, homeostasis, integument, limbs/digits/tail, reproductive, skeleton, vision/eye MP:0001510 - abnormal coat appearance,
Prkab1 protein kinase, AMP-activated, beta 1 non-catalytic subunit brain, eye, liver, skull fatty acid biosynthetic process, fatty acid metabolic process, lipid metabolic process unknown resistance to diet induced obesity, liver steatosis, and hyperinsulinemia MP:0000579 - abnormal nail morphology
Sparc secreted acidic cysteine rich glycoprotein ubiquitous bone and lung development, cell migration, tissue remodelling unknown craniofacial, skeleton, vision/eye MP:0010096 - abnormal incisor color
Vangl1 vang-like protein 1 skin, brain, cartilage, colon, bladder, eye, kidney, bone, thyroid, intestine, heart, lung, oesophagus, parathyroid, spinal cord development, integral to membrane, protein binding unknown hematopoietic system, homeostasis/metabolism, integument MP:0003849 - greasy coat, MP:0000574 - abnormal foot pad morphology, MP:0000575 - dark foot pads