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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col17a1tm1Shzu
targeted mutation 1, Hiroshi Shimizu
MGI:3711776
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col17a1tm1Shzu/Col17a1tm1Shzu B6.129S-Col17a1tm1Shzu MGI:3711939
cx2
Col17a1tm1Shzu/Col17a1tm1Shzu
Tg(KRT14-COL17A1)1Shzu/0
involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr MGI:3711948


Genotype
MGI:3711939
hm1
Allelic
Composition
Col17a1tm1Shzu/Col17a1tm1Shzu
Genetic
Background
B6.129S-Col17a1tm1Shzu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1tm1Shzu mutation (0 available); any Col17a1 mutation (20 available)
phenotype observed in females
phenotype observed in males
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/body
• 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 ID Ref(s)
Epidermolysis Bullosa, Junctional, Non-Herlitz Type 226650 J:121695




Genotype
MGI:3711948
cx2
Allelic
Composition
Col17a1tm1Shzu/Col17a1tm1Shzu
Tg(KRT14-COL17A1)1Shzu/0
Genetic
Background
involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1tm1Shzu mutation (0 available); any Col17a1 mutation (20 available)
Tg(KRT14-COL17A1)1Shzu mutation (0 available)
phenotype observed in females
phenotype observed in males
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
• 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





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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory