About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Krt6a/Krt6btm1Cou
targeted mutation 1, Pierre A Coulombe
MGI:2385808
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou involves: 129S2/SvPas * C57BL/6 * DBA/2 MGI:3810129
cx2
Krt17tm1Cou/Krt17tm1Cou
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
involves: 129S2/SvPas * C57BL/6 MGI:3582966


Genotype
MGI:3810129
hm1
Allelic
Composition
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt6a/Krt6btm1Cou mutation (0 available); any Krt6b mutation (11 available)
phenotype observed in females
phenotype observed in males
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/body
• 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
• 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
• anterior column keratinocytes appear cytolytic and completely lack keratin




Genotype
MGI:3582966
cx2
Allelic
Composition
Krt17tm1Cou/Krt17tm1Cou
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Krt6a/Krt6btm1Cou/Krt6a/Krt6btm1Cou
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Krt17tm1Cou mutation (0 available); any Krt17 mutation (15 available)
Krt6a/Krt6btm1Cou mutation (0 available); any Krt6a mutation (13 available)
Krt6a/Krt6btm1Cou mutation (0 available); any Krt6b mutation (11 available)
phenotype observed in females
phenotype observed in males
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

growth/size/body
• severe lysis and inflammatory changes in the epithelium of the upper palate
• dorsal tongue epithelium destroyed at birth
• severe lysis and inflammatory changes

Mouse Models of Human Disease
OMIM ID Ref(s)
Pachyonychia Congenita 2; PC2 167210 J:95390





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/19/2016
MGI 6.03
The Jackson Laboratory