Phenotypes Associated with This Genotype

Genotype
MGI:8221774

• Allelic Composition: Col7a1^em1Kepa/Col7a1⁺
• Genetic Background: C57BL/6J-Col7a1^em1Kepa

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

integument

abnormal nail morphology ( J:342863 )

• mice start to lose nails by 12 weeks of age

abnormal skin morphology ( J:342863 )

• skin shows a lower number of anchoring fibrils that sit below the lamina densa

• skin shows a reduction of collagen VII; this reduction is greater than in Col7a1^em2Kepa mice and results from increased intracellular retention and reduced extracellular stability

abnormal dermal layer morphology ( J:342863 )

• the dermis shows an increase in CD45+ and S100+ cells

blistering ( J:342863 )

• mice exhibit moderate blistering

• at P1, mice exhibit blisters on the paws and around the mouth, which disappear by P7

• blisters re-appear around the digits from approximately 5 weeks of age

• mice show an earlier onset of blistering and higher penetrance than Col7a1^em2Kepa mice, with most mice affected by 12 weeks of age

• 12-week-old skin shows presence of microscopic blisters at the dermal-epidermal junction and putative separation below the lamina densa of the epidermal basement membrane

growth/size/body

growth/size/body region phenotype ( J:342863 )

N • mice exhibit normal weight gain during development

mortality/aging

mortality/aging ( J:342863 )

N • no signs of increased mortality even up to 6months of age are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant dystrophic epidermolysis bullosa		DOID:0080224	OMIM:131750	J:342863