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Phenotypes Associated with This Genotype
Genotype
MGI:8221777
Allelic
Composition
Col7a1em2Kepa/Col7a1+
Genetic
Background
C57BL/6J-Col7a1em2Kepa
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col7a1em2Kepa mutation (0 available); any Col7a1 mutation (106 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• mice start to lose nails by 12 weeks of age
• skin shows a lower number of anchoring fibrils that sit below the lamina densa
• skin shows a reduction of collagen VII; this reduction is less than in Col7a1em1Kepa mice
• mice exhibit mild to 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 8 weeks of age
• mice show a later onset of blistering and lower penetrance than Col7a1em1Kepa mice
• 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
N
• mice exhibit normal weight gain during development

mortality/aging
N
• no signs of increased mortality even up to 6 months 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
07/22/2025
MGI 6.24
The Jackson Laboratory