Phenotypes associated with this allele

• Allele Symbol: Krt6a/Krt6b^tm1Cou
• Allele Name: targeted mutation 1, Pierre A Coulombe
• Allele ID: MGI:2385807
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:3810121
cx2	Krt17^tm1Cou/Krt17^tm1Cou Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou	involves: 129S2/SvPas * C57BL/6	MGI:3582966

Genotype
MGI:3810121

hm1

• Allelic Composition: Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

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

Growth retardation and tongue blisters in Krt6a/Krt6b^tm1Cou/Krt6a/Krt6b^tm1Cou mice

mortality/aging

postnatal lethality, complete penetrance ( J:64033 )

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

growth/size/body

abnormal hard palate morphology ( J:64033 )

• 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

abnormal tongue epithelium morphology ( J:64033 )

• 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

abnormal filiform papillae morphology ( J:64033 )

• keratin filaments are completely absent in anterior column cells of the filiform papillae, although numerous keratohyalin granules and desmosomes are seen

decreased body weight ( J:64033 )

• mutants weigh about half that of controls

postnatal growth retardation ( J:64033 )

• growth delay is seen starting at 2-3 days after birth and is associated with reduced milk intake

behavior/neurological

decreased food intake ( J:64033 )

• reduction in milk intake the days after birth

craniofacial

abnormal hard palate morphology ( J:64033 )

• 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

abnormal tongue epithelium morphology ( J:64033 )

• 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

abnormal filiform papillae morphology ( J:64033 )

• keratin filaments are completely absent in anterior column cells of the filiform papillae, although numerous keratohyalin granules and desmosomes are seen

digestive/alimentary system

abnormal hard palate morphology ( J:64033 )

• 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

abnormal tongue epithelium morphology ( J:64033 )

• 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

abnormal filiform papillae morphology ( J:64033 )

• keratin filaments are completely absent in anterior column cells of the filiform papillae, although numerous keratohyalin granules and desmosomes are seen

abnormal esophagus morphology ( J:64033 )

• mild cytolysis is occasionally seen in the esophagus but not in the forestomach

integument

integument phenotype ( J:64033 )

N • mutants do not develop nail epithelium abnormalities

abnormal keratinocyte morphology ( J:64033 )

• anterior column keratinocytes appear cytolytic and completely lack keratin

Genotype
MGI:3582966

cx2

• 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

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