Allele Symbol Allele Name Allele ID |
Adam17tm1.2Bbl targeted mutation 1.2, Carl P Blobel MGI:4354847 |
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Summary |
5 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• increase in transepidermal water loss indicating barrier dysfunction
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• dry skin progresses to eczematous lesion (eczematous dermatitis)
• skin lesions show mononuclear cell infiltrates including lymphocytes and mast cells
• epidermal T cell composition is altered, with dendritic epidermal T cells, a resident Vgamma5+ gammadelta T cell subset in epidermis, replaced by massive infiltration of Vgamma5neg gammadelta TCRmid T cells and CD4+ T cells
• about 20% of Vgamma5neg gammadelta TCRmid T cells express Vgamma4, but the majority do not
• analysis of infiltrating T cells shows that epidermal CD4 T cells consist of Th17 and Th22 cells, and the majority of Vgamma5neg gammadelta TCRmid T cells produce interleukin-17 (gammadeltaT17) and a fraction of which also produce interleukin-22
• mice treated with the antibiotics cefazolin and enrofloxacin after weaning are almost completely protected from developing eczematous lesions, however skin inflammation develops upon antibiotic withdrawal
• mice treated with antibiotics at 10 weeks after birth show improvement in eczematous dermatitis and inflammation
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• mice exhibit altered skin microbiota, with a striking overgrowth of S. aureus which is seen within stratum corneum and follicular openings
• skin microbiota undergoes a sequential change where dysbiosis starts with the emergence of Corynebacterium mastitidis and then S. aureus and Corynebacterium bovis predominating later
• antibiotic-treated mice exhibit a higher bacterial diversity, with a reduction in S. aureus and C. bovis, however, withdrawal of antibiotics leads to skin microbiome dysbiosis
• mice treated with antibiotics at 10 weeks after birth show reversal of skin microbiome dysbiosis
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• epidermal T cell composition is altered, with dendritic epidermal T cells, a resident Vgamma5+ gammadelta T cell subset in epidermis, replaced by massive infiltration of Vgamma5neg gammadelta TCRmid T cells and CD4+ T cells
• antibiotic treatment normalizes epidermal gammadelta T cell constituents
• antibiotic treatment does not affect CD4+ T cell numbers in the epidermis and they remain high, however these T cells produce less IL-4 and do not produce IL-17A or IL-22
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• mice develop intense pruritus
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• cytokine expression analysis in skin draining lymph nodes indicates an increase in numbers of Th1 cells
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• cytokine expression analysis in skin draining lymph nodes indicates a prominent increase in Th17 cells
• antibiotic treated mice show a reduction in the numbers of Th17 cells in skin draining lymph nodes
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• cytokine expression analysis in skin draining lymph nodes indicates an increase in numbers of Th2 cells
• antibiotic treated mice show a reduction in the numbers of Th2 cells in skin draining lymph nodes
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• serum IgE levels are elevated
• mice treated with the antibiotics cefazolin and enrofloxacin after weaning have lower serum IgE concentrations
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• CCL17, a T helper 2 cell chemokine, levels are elevated
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• dry skin progresses to eczematous lesion (eczematous dermatitis)
• skin lesions show mononuclear cell infiltrates including lymphocytes and mast cells
• epidermal T cell composition is altered, with dendritic epidermal T cells, a resident Vgamma5+ gammadelta T cell subset in epidermis, replaced by massive infiltration of Vgamma5neg gammadelta TCRmid T cells and CD4+ T cells
• about 20% of Vgamma5neg gammadelta TCRmid T cells express Vgamma4, but the majority do not
• analysis of infiltrating T cells shows that epidermal CD4 T cells consist of Th17 and Th22 cells, and the majority of Vgamma5neg gammadelta TCRmid T cells produce interleukin-17 (gammadeltaT17) and a fraction of which also produce interleukin-22
• mice treated with the antibiotics cefazolin and enrofloxacin after weaning are almost completely protected from developing eczematous lesions, however skin inflammation develops upon antibiotic withdrawal
• mice treated with antibiotics at 10 weeks after birth show improvement in eczematous dermatitis and inflammation
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• cytokine expression analysis in skin draining lymph nodes indicates an increase in numbers of Th1 cells
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• cytokine expression analysis in skin draining lymph nodes indicates a prominent increase in Th17 cells
• antibiotic treated mice show a reduction in the numbers of Th17 cells in skin draining lymph nodes
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• cytokine expression analysis in skin draining lymph nodes indicates an increase in numbers of Th2 cells
• antibiotic treated mice show a reduction in the numbers of Th2 cells in skin draining lymph nodes
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• serum IgE levels are elevated
• mice treated with the antibiotics cefazolin and enrofloxacin after weaning have lower serum IgE concentrations
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• CCL17, a T helper 2 cell chemokine, levels are elevated
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• increase in transepidermal water loss indicating barrier dysfunction
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
atopic dermatitis | DOID:3310 |
OMIM:603165 OMIM:PS603165 |
J:229771 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• some animals die by 5 months of age, but the majority survive past 5 months
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• after 12 weeks of age, body weight of animals is decreased compared to controls
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• mice show retarded growth
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• spleen is proportionately larger by 8 weeks
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• hematopoiesis occurs in spleen (resulting is splenomegaly) and liver (which becomes more prominent with age)
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• marrow is hypercellular
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• at 8 weeks
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• at 8 weeks
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• at 8 weeks
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• white blood cell number is decreased compared to controls at 8 weeks
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• relative decrease compared to controls is observed at 8 weeks
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• relative decrease compared to controls is observed at 8 weeks
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• at 8 weeks
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• increased compared to controls
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• increased compared to controls
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• lymphoid follicle development is retarded in 3 week-old mice; at 8 weeks, lymphoid follicles have developed to comparable extent as controls
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• spleen is proportionately larger by 8 weeks
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• by 8 weeks, expansion of spleen red pulp amount leads to splenomegaly
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• white blood cell number is decreased compared to controls at 8 weeks
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• relative decrease compared to controls is observed at 8 weeks
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• relative decrease compared to controls is observed at 8 weeks
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• at 8 weeks
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• increased compared to controls
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• increased compared to controls
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• lymphoid follicle development is retarded in 3 week-old mice; at 8 weeks, lymphoid follicles have developed to comparable extent as controls
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• spleen is proportionately larger by 8 weeks
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• by 8 weeks, expansion of spleen red pulp amount leads to splenomegaly
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• serum Il17 is significantly elevated
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• levels of Il17 are highly elevated compared to controls due to increase in Il17 producing cells
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• serum Il17 is significantly elevated
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• females are sterile
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• male fertility is severely impaired
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• femur length is 10-15% shorter than controls
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• zone is shorter than in controls
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• zone is elongated; elongation is prominent at 2-3 weeks of age, and is less evident in older animals
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• bones are shorter than in controls
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• femur length is 10-15% shorter than controls
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• metatarsi remained filled with bone marrow cells at least up to 4 months postnatal, whereas bone marrow in control bones is replaced by adipose tissue beginning around 3 weeks of age, and is completely filled with fat cells by 8 weeks after birth
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• beginning at 8 weeks, animals have less cortical bone
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• beginning at 8 weeks, animals have less trabecular bone
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• bone mass of femur is decreased compared to controls
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• animals show high-turnover type osteoporosis (characterized by increased osteoclast and osteoblast activities by about 8 weeks of age)
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• osteoclast-related (eroded surfaces, osteoclast numbers, and osteoclast surfaces) and osteoblast-related (osteoid volume, osteoid surfaces, and osteoblast surfaces) parameters are increased compared to controls
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• mice are born with their eyes open
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• mice have hair defects
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• mice show skin defects
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice develop eczematous dermatitis
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• mice develop eczematous dermatitis
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice develop eczematous dermatitis
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• mice develop eczematous dermatitis
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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 11/19/2024 MGI 6.24 |
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