Phenotypes Associated with This Genotype

Genotype
MGI:2653131

• Allelic Composition: Krt14^tm2Der/Krt14⁺
• Genetic Background: involves: 129X1/SvJ

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

Blistering on the left front leg and abdomen of Krt14^tm2Der/Krt14⁺ pups

mortality/aging

postnatal lethality, complete penetrance ( J:67320 )

• mutants die a week after birth due to severe blistering

integument

abnormal keratinocyte morphology ( J:67320 )

• basal keratinocytes contain keratin clumps and short keratin filaments, in contrast to wild type keratinocytes which contain long keratin filaments

• however, normal keratin filaments are seen in the suprabasal layer of the epidermis

blistering ( J:67320 )

• pups develop large blisters on their forelimbs and trunk

• lymphocyte infiltration is seen in blistering areas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex Dowling-Meara type		DOID:0060735	OMIM:131760	J:67320