Phenotypes Associated with This Genotype

Genotype
MGI:5426823

• Allelic Composition: Krt16^{tm1(KOMP)Vlcg}/Krt16^{tm1(KOMP)Vlcg}
• Genetic Background: C57BL/6-Krt16^{tm1(KOMP)Vlcg}
• Cell Lines: 10501A-A5

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:184621 )

postnatal lethality, incomplete penetrance ( J:184621 )

• 60% of mice die before weaning

integument

integument phenotype ( J:184621 )

N • mice exhibit normal nail morphology

impaired skin barrier function ( J:184621 )

• in weight-bearing areas

hyperkeratosis ( J:184621 )

• as early as 3 weeks, mice occasionally exhibit generalized hyperkeratosis on the front paw pads and focal hyperkeratosis near the base of the tail unlike wild-type mice

• at 4 to 6 weeks, mice exhibit hyperkeratotic calluses on the glabrous parts of both front and hind paws that are restricted to areas of physical pressure unlike wild-type mice

skin lesions ( J:184621 )

• at 4 to 6 weeks, mice exhibit hyperkeratotic calluses on the glabrous parts of both front and hind paws that are restricted to areas of physical pressure unlike wild-type mice

thick skin ( J:184621 )

• thickened epithelium in areas adjacent to calluses

growth/size/body

abnormal tongue epithelium morphology ( J:184621 )

• at P3 mice, exhibit hypoplastic lesions in the posterior dorsal tongue epithelium along the midline unlike wild-type mice

• mice exhibit thickened epithelium compared with wild-type mice

• however, no epithelial fragility is observed

abnormal filiform papillae morphology ( J:184621 )

• mice exhibit loss of filiform papillae unlike wild-type mice

decreased birth weight ( J:184621 )

decreased body size ( J:184621 )

• throughout life

decreased body weight ( J:184621 )

• throughout life

digestive/alimentary system

abnormal tongue epithelium morphology ( J:184621 )

• at P3 mice, exhibit hypoplastic lesions in the posterior dorsal tongue epithelium along the midline unlike wild-type mice

• mice exhibit thickened epithelium compared with wild-type mice

• however, no epithelial fragility is observed

abnormal filiform papillae morphology ( J:184621 )

• mice exhibit loss of filiform papillae unlike wild-type mice

behavior/neurological

decreased locomotor activity ( J:184621 )

• mice spend more time resting than walking compared with wild-type mice

homeostasis/metabolism

impaired skin barrier function ( J:184621 )

• in weight-bearing areas

cellular

increased cell proliferation ( J:184621 )

• 2-fold increase in cell proliferation of the cells in the calluses and a modest increase in uninvolved areas adjacent to calluses

craniofacial

abnormal tongue epithelium morphology ( J:184621 )

• at P3 mice, exhibit hypoplastic lesions in the posterior dorsal tongue epithelium along the midline unlike wild-type mice

• mice exhibit thickened epithelium compared with wild-type mice

• however, no epithelial fragility is observed

abnormal filiform papillae morphology ( J:184621 )

• mice exhibit loss of filiform papillae unlike wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nonepidermolytic palmoplantar keratoderma		DOID:0050428	OMIM:600962	J:184621
pachyonychia congenita		DOID:0050449	OMIM:PS167200	J:184621