Mouse Genome Informatics
hm1
    Col17a1tm1Shzu/Col17a1tm1Shzu
B6.129-Col17a1tm1Shzu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most mice die within 2 weeks of birth; mortality rates at 8 weeks of age are 80.1% vs 4% of wild-type

growth/size
• relative to wild-type littermates, mice show growth retardation

reproductive system
• mice are unable to reproduce

integument
• small and poorly formed hemidesmosomes lacking prominent inner and outer plaques and keratin filament insertion are observed compared to controls
• at birth, blisters can be created by mild friction
• mice show subepidermal blistering
• at birth, blisters and erosion at sites of trauma are easily induced by mild friction
• in homozygous pups, genital erosions and hemorrhagic blisters around the digits are also seen

Mouse Models of Human Disease
OMIM IDRef(s)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type 226650 J:121695


Mouse Genome Informatics
cx2
    Col17a1tm1Shzu/Col17a1tm1Shzu
Tg(KRT14-COL17A1)1Shzu/0

involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• mutants expressing the transgene are able to reproduce, in contrast to Col17a1-deficient mice

immune system
• following intraperitoneal injection with 1 mg/g total IgG from patients with bullous Pemphigoid (BM), treatment of mice with R1-GST results in marked reduction in BP autoantibodies

integument
N
• mice show none of the outward abnormal manifestations that Col17a1-deficient mice show (J:121695)
• when injected with IgG directed against human COL17A1, mice display epidermal separation elicited by gentle skin friction at 48 hours post-injection
• there is dermal-epidermal separation in the lamina lucida between the plasma membrane of basal keratinocytes and the lamina densa
• following intraperitoneal injection with 1 mg/g total IgG from patients with bullous Pemphigoid (BM), treatment of mice with R1-GST results in marked reduction of skin blisters
• when injected with IgG directed against human COL17A1, mice develop diffuse erythema
• mice have lesions showing inflammatory cell infiltrate including neutrophils and lymphocytes
• there is a linear deposition of human IgG along the dermal-epidermal juctions
• R1 is a peptide that suppresses the BM antibody complex; following intraperitoneal injection with 1 mg/g total IgG from patients with Bullous Pemphigoid (BM), treatment of mice with R1-GST results in marked reduction of skin fragility or blistering, and no subepidermal blistering is observed after treatment
• there is reduced human IgG deposition along dermal-epidermal junction after R1 treatment