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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)
No mouse lines available in IMSR.
See publication links below for author information.
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 (J:121695)
• most mice die within 2 weeks of birth; mortality rates at 8 weeks of age are 80.1% vs 4% of wild-type (J:121695)

growth/size/body
• relative to wild-type littermates, mice show growth retardation (J:121695)
• relative to wild-type littermates, mice show growth retardation (J:121695)

reproductive system
• mice are unable to reproduce (J:121695)
• mice are unable to reproduce (J:121695)

integument
• small and poorly formed hemidesmosomes lacking prominent inner and outer plaques and keratin filament insertion are observed compared to controls (J:121695)
• small and poorly formed hemidesmosomes lacking prominent inner and outer plaques and keratin filament insertion are observed compared to controls (J:121695)
• at birth, blisters can be created by mild friction (J:121695)
• mice show subepidermal blistering (J:121695)
• at birth, blisters can be created by mild friction (J:121695)
• mice show subepidermal blistering (J:121695)
• at birth, blisters and erosion at sites of trauma are easily induced by mild friction (J:121695)
• in homozygous pups, genital erosions and hemorrhagic blisters around the digits are also seen (J:121695)
• at birth, blisters and erosion at sites of trauma are easily induced by mild friction (J:121695)
• in homozygous pups, genital erosions and hemorrhagic blisters around the digits are also seen (J:121695)

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)
No mouse lines available in IMSR.
See publication links below for author information.
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 (J:121695)
• mutants expressing the transgene are able to reproduce, in contrast to Col17a1-deficient mice (J:121695)

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 (J:121695)
• 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 (J:121695)

integument
N
• mice show none of the outward abnormal manifestations that Col17a1-deficient mice show (J:121695)
• 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 (J:121695)
• there is dermal-epidermal separation in the lamina lucida between the plasma membrane of basal keratinocytes and the lamina densa (J:121695)
• when injected with IgG directed against human COL17A1, mice display epidermal separation elicited by gentle skin friction at 48 hours post-injection (J:121695)
• there is dermal-epidermal separation in the lamina lucida between the plasma membrane of basal keratinocytes and the lamina densa (J:121695)
• 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 (J:121695)
• 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 (J:121695)
• when injected with IgG directed against human COL17A1, mice develop diffuse erythema (J:121695)
• when injected with IgG directed against human COL17A1, mice develop diffuse erythema (J:121695)
• mice have lesions showing inflammatory cell infiltrate including neutrophils and lymphocytes (J:121695)
• there is a linear deposition of human IgG along the dermal-epidermal juctions (J:121695)
• 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 (J:121695)
• there is reduced human IgG deposition along dermal-epidermal junction after R1 treatment (J:121695)
• mice have lesions showing inflammatory cell infiltrate including neutrophils and lymphocytes (J:121695)
• there is a linear deposition of human IgG along the dermal-epidermal juctions (J:121695)
• 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 (J:121695)
• there is reduced human IgG deposition along dermal-epidermal junction after R1 treatment (J:121695)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory