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Phenotypes Associated with This Genotype
Genotype
MGI:6195005
Allelic
Composition
Col17a1tm1.1(COL17A1)Zliu/Col17a1tm1.1(COL17A1)Zliu
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col17a1tm1.1(COL17A1)Zliu mutation (0 available); any Col17a1 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• skin blisters of anti-Col17a1 NC16A autoantibody injected mice are subepidermal, lesional site is at the lamina lucida, and the skin contains degranulated dermal mast cells and a predominant neutrophil infiltrate but no eosinophils
• mice pretreated with cobra venom factor to deplete complement are resistant to the pathogenic effects of the anti-Col17a1 NC16A autoantibodies
• mice pretreated with cromolyn, an inhibitor of mast cell activation, show inhibition of anti- anti-Col17a1 NC16A autoantibody-induced mast cell degranulation, neutrophil infiltration and blistering
• mice pretreated with neutrophil-depleting rat antibody show inhibition of anti-Col17a1 NC16A autoantibody-induced neutrophil infiltration and bullous pemphigoid
• neonatal mice injected with anti-Col17a1 NC16A autoantibodies develop skin lesions at 24 hours past-injection containing deposition of human IgG and murine C3 at the basement membrane zone indicative of bullous pemphigoid

immune system
• skin lesions/blisters of anti-Col17a1 NC16A autoantibody injected mice contain degranulated dermal mast cells
• skin lesions/blisters of anti-Col17a1 NC16A autoantibody injected mice contain a predominant neutrophil infiltrate but no eosinophils

hematopoietic system
• skin lesions/blisters of anti-Col17a1 NC16A autoantibody injected mice contain degranulated dermal mast cells
• skin lesions/blisters of anti-Col17a1 NC16A autoantibody injected mice contain a predominant neutrophil infiltrate but no eosinophils

cellular
• skin lesions/blisters of anti-Col17a1 NC16A autoantibody injected mice contain degranulated dermal mast cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
bullous pemphigoid DOID:8506 J:261781


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory