Mouse Genome Informatics
hm1
    Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
involves: 129S2/SvPas * C57BL/6 * DBA/2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Growth retardation and tongue blisters in Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou mice

mortality/aging
• all homozygotes become very weak and die between 5 to 10 days after birth

growth/size
• mutants weigh about half that of controls
• growth delay is seen starting at 2-3 days after birth and is associated with reduced milk intake

behavior/neurological
• reduction in milk intake the days after birth

craniofacial
• mutants develop severe blistering/lesions in the ventral surface of the upper palate towards the posterior end of the mouth
• blisters develop shortly after birth and coincide with the onset of suckling
• upper palate contains large amounts of cellular debris facing the oral cavity
• mutants develop severe blistering/lesions in the posterior region of the dorsal tongue
• within the blisters, the epithelium is thickened and shows signs of intraepithelial edema
• blisters develop shortly after birth and coincide with the onset of suckling
• blisters form as a result of cleavage within the suprabasal layers of the epithelium
• keratin filaments are completely absent in anterior column cells of the filiform papillae, although numerous keratohyalin granules and desmosomes are seen

digestive/alimentary system
• mutants develop severe blistering/lesions in the ventral surface of the upper palate towards the posterior end of the mouth
• blisters develop shortly after birth and coincide with the onset of suckling
• upper palate contains large amounts of cellular debris facing the oral cavity
• mutants develop severe blistering/lesions in the posterior region of the dorsal tongue
• within the blisters, the epithelium is thickened and shows signs of intraepithelial edema
• blisters develop shortly after birth and coincide with the onset of suckling
• blisters form as a result of cleavage within the suprabasal layers of the epithelium
• keratin filaments are completely absent in anterior column cells of the filiform papillae, although numerous keratohyalin granules and desmosomes are seen
• mild cytolysis is occasionally seen in the esophagus but not in the forestomach

integument
N
• mutants do not develop nail epithelium abnormalities (J:64033)
• anterior column keratinocytes appear cytolytic and completely lack keratin


Mouse Genome Informatics
cx2
    Krt17tm1Cou/Krt17tm1Cou
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou

involves: 129S2/SvPas * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• triple homozygotes usually die between the first and fourth day after birth

craniofacial
• severe lysis and inflammatory changes in the epithelium of the upper palate
• dorsal tongue epithelium destroyed at birth
• severe lysis and inflammatory changes

digestive/alimentary system
• severe lysis and inflammatory changes in the epithelium of the upper palate
• dorsal tongue epithelium destroyed at birth
• severe lysis and inflammatory changes

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

Mouse Models of Human Disease
OMIM IDRef(s)
Pachyonychia Congenita, Type 2; PC2 167210 J:95390