Phenotypes Associated with This Genotype

Genotype
MGI:5311585

• Allelic Composition: Plec^tm7.1Gwi/Plec⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Skin abnormalities in heterozygous and homozygous Plec^tm7.1Gwi mice

integument

abnormal keratinocyte morphology ( J:179812 )

• the numbers of hemidesmosomes appear to be reduced in basal keratinocytes

dermal-epidermal separation ( J:179812 )

• in lesion areas a separation of the epidermis from the dermis at the level of basal keratinocytes is seen

• separation occurs just above the hemidesmosomes of the basal cells, leaving the resulting blister floor covered by cytoplasmic debris including fragments of hemidesmosomes

skin lesions ( J:179812 )

• small epidermal lesions are detectable microscopically most frequently on the head, legs and back skin

abnormal keratinocyte physiology ( J:179812 )

• in primary cultured keratinocytes urea induced keratin intermediate filament network collapse is enhanced

abnormal skin exfoliation ( J:179812 )

• following epidermal exfoliation transepidermal water loss is enhanced compared to wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epidermolysis bullosa simplex Ogna type		DOID:0060736	OMIM:131950	J:179812