Mouse Genome Informatics
hm1
    Col7a1tm1Lbt/Col7a1tm1Lbt
involves: 129S1/Sv * 129X1/SvJ * C57BL/6Crl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Col7a1tm1Lbt/Col7a1tm1Lbt mice develop blisters early after birth

mortality/aging
• some mice fed a liquid diet survive longer than 100 days
• 67% die before weaning
• feeding mice a liquid diet from P10 improves survival and weight gain

limbs/digits/tail
• at 80 days of age paws display dermal-epidermal separation, thickening of the epidermis, accumulation of connective tissue and decrease of elastic fibers in the dermis indicating strong dermal fibrosis
• beginning at 2 -3 weeks of age the paw condition worsens to include shortened or missing digits
• by 9 - 12 weeks of age partial or complete mitten deformities (pseudosyndactyly) are seen
• deformities are more severe on the forepaws than on the hindpaws
• deformities are the result of soft tissue accumulation and contraction not bone deformities
• severe contractures

digestive/alimentary system
• blistering that results in malnutrition

growth/size
• average weight at 2 - 3 weeks of age is about half that of control littermates and this difference is maintained until adolescence
• feeding mice a liquid diet from P10 improves survival and weight gain

skeleton
• reduced mineral content in the long bones of the extremities
• reduced mineral content in the long bones of the extremities

craniofacial
• blistering that results in malnutrition

integument
• beginning at 2 -3 weeks of age the paw condition worsens to include nail dystrophy
• at 80 days of age paws show accumulation of connective tissue and decrease of elastic fibers in the dermis indicating strong dermal fibrosis
• hemidesmosomes are normal but few anchoring fibrils are present
• relative thickening in the paws at 80 days of age
• at 80 days of age paws display dermal-epidermal separation
• hemorrhagic subepidermal blisters form on the soles of the fore and hind paws within 24 - 48 hours after birth
• blisters occasionally form on the ears and mouth
• variable extent of blister formation
• splitting of the skin occurs below the lamina densa