Phenotypes Associated with This Genotype

Genotype
MGI:2653129

• Allelic Composition: Krt14^tm1Der/Krt14^tm1Der
• Genetic Background: involves: 129X1/SvJ

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

Severe blisters on the front legs, paws, and chest of Krt14^tm1Der/Krt14^tm1Der pups

mortality/aging

postnatal lethality, complete penetrance ( J:67320 )

• usually die within 48 hours after birth

integument

abnormal keratinocyte morphology ( J:67320 )

• basal keratinocytes of lesional areas contain keratin clumps

• isolated primary keratinocytes subjected to heat shock show a collapsed perinuclear intermediate filament network and cytoplasmic keratin aggregates

blistering ( J:67320 )

• mutants develop extensive blisters on the front legs, paws, and chest within hours after birth

• the separation occurs within the basal cell layer of the epidermis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex		DOID:4644	OMIM:601001 OMIM:615425	J:67320