Phenotypes associated with this allele

• Allele Symbol: Col17a1^tm1Shzu
• Allele Name: targeted mutation 1, Hiroshi Shimizu
• Allele ID: MGI:3711776
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col17a1^tm1Shzu/Col17a1^tm1Shzu	B6.129S-Col17a1^tm1Shzu	MGI:3711939
cx2	Col17a1^tm1Shzu/Col17a1^tm1Shzu Tg(KRT14-COL17A1)1Shzu/0	involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr	MGI:3711948

Genotype
MGI:3711939

hm1

• Allelic Composition: Col17a1^tm1Shzu/Col17a1^tm1Shzu
• Genetic Background: B6.129S-Col17a1^tm1Shzu

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

mortality/aging

postnatal lethality, incomplete penetrance ( 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

growth/size/body

postnatal growth retardation ( J:121695 )

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

reproductive system

abnormal fertility/fecundity ( J:121695 )

• mice are unable to reproduce

integument

sparse hair ( J:121695 )

abnormal epidermal layer morphology ( J:121695 )

• small and poorly formed hemidesmosomes lacking prominent inner and outer plaques and keratin filament insertion are observed compared to controls

blistering ( J:121695 )

• at birth, blisters can be created by mild friction

• mice show subepidermal blistering

abnormal skin condition ( J:121695 )

• 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		DO ID	OMIM ID(s)	Ref(s)
junctional epidermolysis bullosa non-Herlitz type		DOID:0060738	OMIM:226650	J:121695

Genotype
MGI:3711948

cx2

• Allelic Composition: Col17a1^tm1Shzu/Col17a1^tm1Shzu; Tg(KRT14-COL17A1)1Shzu/0
• Genetic Background: involves: 129S/SvEv * C57BL/6J * C57BL/6Ncr

reproductive system

abnormal reproductive system physiology ( J:121695 )

• mutants expressing the transgene are able to reproduce, in contrast to Col17a1-deficient mice

immune system

decreased autoantibody level ( 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

integument

integument phenotype ( J:121695 )

N • mice show none of the outward abnormal manifestations that Col17a1-deficient mice show

dermal-epidermal separation ( 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

blistering ( 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

reddish skin ( J:121695 )

• when injected with IgG directed against human COL17A1, mice develop diffuse erythema

skin lesions ( J:121695 )

• 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