Phenotypes Associated with This Genotype

Genotype
MGI:3037979

• Allelic Composition: Col7a1^tm1Uit/Col7a1^tm1Uit
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:58533 )

• 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

integument

abnormal dermal layer morphology ( J:58533 )

• 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

blistering ( J:58533 )

• 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	J:58533