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Phenotypes Associated with This Genotype
involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col7a1tm1Uit mutation (0 available); any Col7a1 mutation (63 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• most affected homozygous mutant mice die within the first postnatal week from complications of blistering
• only a few mutant animals survive beyond the first week of life; one mutant survived past 3 weeks, requiring extensive supportive care

• histopathologically, the perilesional ventral skin in mutants shows tissue cleavage at the dermal-epidermal junction; notably, the blister-free dorsal skin also displays focal dermal-epidermal tissue separation
• transmission electron microscopy confirmed that blister formation occurs in the sub-lamina densa area at the dermal side of the cutaneous basement membrane zone, the lamina densa being intact in the roof of the blister
• electron microscopy of non-blistered skin demonstrated absence of anchoring fibrils, which are readily detectable in both wild-type and heterozygous mutant mice
• homozygous mutant mice show a striking blistering phenotype at birth or shortly thereafter
• in homozygotes, large blisters develop primarily on the ventral side, often extending to cover the extremities; the dorsal side develops blisters less frequently
• older homozygous mutant pups display erosions on their feet and blistering of the mucous membranes of the oral cavity
• those few animals surviving beyond the first week of life show normal hair growth, which appears to coincide with lessening of the blistering tendency in the skin; these mice continue to develop oral blisters, and eventually most of them die before the age of 2 weeks

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
recessive dystrophic epidermolysis bullosa DOID:0060642 OMIM:226600

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
MGI 6.22
The Jackson Laboratory