Phenotypes Associated with This Genotype

Genotype
MGI:3582966

• Allelic Composition: Krt17^tm1Cou/Krt17^tm1Cou; Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou; Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:95390 )

• triple homozygotes usually die between the first and fourth day after birth

craniofacial

abnormal palate morphology ( J:95390 )

• severe lysis and inflammatory changes in the epithelium of the upper palate

abnormal tongue epithelium morphology ( J:95390 )

• dorsal tongue epithelium destroyed at birth

• severe lysis and inflammatory changes

digestive/alimentary system

abnormal palate morphology ( J:95390 )

• severe lysis and inflammatory changes in the epithelium of the upper palate

abnormal tongue epithelium morphology ( J:95390 )

• dorsal tongue epithelium destroyed at birth

• severe lysis and inflammatory changes

integument

abnormal nail morphology ( J:95390 )

• cell lysis in the nail bed affecting the lowermost suprabasal layers of the epithelium

growth/size/body

abnormal palate morphology ( J:95390 )

• severe lysis and inflammatory changes in the epithelium of the upper palate

abnormal tongue epithelium morphology ( J:95390 )

• dorsal tongue epithelium destroyed at birth

• severe lysis and inflammatory changes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pachyonychia congenita		DOID:0050449	OMIM:PS167200	J:95390