Phenotypes Associated with This Genotype

Genotype
MGI:3812462

• Allelic Composition: Krt14^tm1Efu/Krt14^tm1Efu
• Genetic Background: involves: 129

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

Krt14^tm1Efu/Krt14^tm1Efu mice exhibit gross blistering over body surface

mortality/aging

decreased survivor rate ( J:25763 )

• the health of surviving mutants deteriorates as they age despite an improvement of the blistering on the body

postnatal lethality, incomplete penetrance ( J:25763 )

• most mutants die around two days after birth

digestive/alimentary system

abnormal esophagus morphology ( J:25763 )

• esophagus appears fragile as it breaks and disintegrates easily upon dissection

• reduced number of keratin filaments in both basal and suprabasal layers of the esophagus and the cells have a network of dispersed filaments rather than bundled filaments as in wild-type

reproductive system

abnormal vagina epithelium morphology ( J:25763 )

♀ • vaginal epithelium is blistered

respiratory system

abnormal trachea morphology ( J:25763 )

• trachea appears fragile as it breaks and disintegrates easily upon dissection

vision/eye

decreased cornea epithelium thickness ( J:25763 )

• thin corneal epithelium due to the basal cell cytolysis

integument

abnormal epidermis stratum basale morphology ( J:25763 )

• the basal layer of the epidermis does not contain keratin filament bundles, although a residual, minor network of wispy filaments is attached to hemidesmosomes and desmosomes of the basal cells

• the epidermis of skin where a thick protective hair coat is not present exhibits basal cell cytolysis

abnormal keratinocyte morphology ( J:25763 )

• basal keratinocytes lack a substantial keratin filament network and exhibit severe cytolysis

blistering ( J:25763 )

• mutants begin to show skin blistering over the entire body within two days after birth

• similar to patients with epidermolysis bullosa simplex, initial blister formation occurs within the subnuclear cytoplasm of basal cells, however blistering is more severe than in humans

• some mutants survive and when the first hair coat becomes plush at around 2-4 weeks, their body trunk blisters heal without scarring

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex		DOID:4644	OMIM:601001 OMIM:615425	J:25763