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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Adam17tm1.2Bbl
targeted mutation 1.2, Carl P Blobel
MGI:4354847
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Adam17tm1.2Bbl/Adam17tm1.2Bbl involves: 129P2/OlaHsd * C57BL/6 MGI:4354990
cn2
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Sox9tm3(cre)Crm/Sox9+
B6.129(SJL)-Sox9tm3(cre)Crm Adam17tm1.2Bbl MGI:6241552
cn3
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Sox9tm3(cre)Crm/Sox9+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 MGI:4355046
cn4
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Il17atm1Yiw/Il17atm1Yiw
Sox9tm3(cre)Crm/Sox9+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * SJL MGI:6241555
cn5
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Il23atm1Dnax/Il23atm1Dnax
Sox9tm3(cre)Crm/Sox9+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * SJL MGI:6241556


Genotype
MGI:4354990
hm1
Allelic
Composition
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.2Bbl mutation (1 available); any Adam17 mutation (64 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are viable and fertile




Genotype
MGI:6241552
cn2
Allelic
Composition
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Sox9tm3(cre)Crm/Sox9+
Genetic
Background
B6.129(SJL)-Sox9tm3(cre)Crm Adam17tm1.2Bbl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.2Bbl mutation (1 available); any Adam17 mutation (64 available)
Sox9tm3(cre)Crm mutation (1 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• increase in transepidermal water loss indicating barrier dysfunction
• 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
• 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
• 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
• mice exhibit dry skin around 3 weeks after birth
• mice develop intense pruritus

immune system
• cytokine expression analysis in skin draining lymph nodes indicates an increase in numbers of Th1 cells
• 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
• 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
• serum IgE levels are elevated
• mice treated with the antibiotics cefazolin and enrofloxacin after weaning have lower serum IgE concentrations
• CCL17, a T helper 2 cell chemokine, levels are elevated
• 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

hematopoietic system
• cytokine expression analysis in skin draining lymph nodes indicates an increase in numbers of Th1 cells
• 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
• 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
• serum IgE levels are elevated
• mice treated with the antibiotics cefazolin and enrofloxacin after weaning have lower serum IgE concentrations

homeostasis/metabolism
• CCL17, a T helper 2 cell chemokine, levels are elevated
• increase in transepidermal water loss indicating barrier dysfunction

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
atopic dermatitis DOID:3310 OMIM:603165
OMIM:PS603165
J:229771




Genotype
MGI:4355046
cn3
Allelic
Composition
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Sox9tm3(cre)Crm/Sox9+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.2Bbl mutation (1 available); any Adam17 mutation (64 available)
Sox9tm3(cre)Crm mutation (1 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some animals die by 5 months of age, but the majority survive past 5 months

growth/size/body
• after 12 weeks of age, body weight of animals is decreased compared to controls
• mice show retarded growth
• spleen is proportionately larger by 8 weeks

hematopoietic system
• hematopoiesis occurs in spleen (resulting is splenomegaly) and liver (which becomes more prominent with age)
• marrow is hypercellular
• at 8 weeks
• at 8 weeks
• white blood cell number is decreased compared to controls at 8 weeks
• relative decrease compared to controls is observed at 8 weeks
• relative decrease compared to controls is observed at 8 weeks
• increased compared to controls
• increased compared to controls
• lymphoid follicle development is retarded in 3 week-old mice; at 8 weeks, lymphoid follicles have developed to comparable extent as controls
• spleen is proportionately larger by 8 weeks
• by 8 weeks, expansion of spleen red pulp amount leads to splenomegaly

immune system
• white blood cell number is decreased compared to controls at 8 weeks
• relative decrease compared to controls is observed at 8 weeks
• relative decrease compared to controls is observed at 8 weeks
• increased compared to controls
• increased compared to controls
• lymphoid follicle development is retarded in 3 week-old mice; at 8 weeks, lymphoid follicles have developed to comparable extent as controls
• spleen is proportionately larger by 8 weeks
• by 8 weeks, expansion of spleen red pulp amount leads to splenomegaly
• serum Il17 is significantly elevated
• levels of Il17 are highly elevated compared to controls due to increase in Il17 producing cells

homeostasis/metabolism
• serum Il17 is significantly elevated

reproductive system
• females are sterile
• male fertility is severely impaired

limbs/digits/tail
• femur length is 10-15% shorter than controls

skeleton
• zone is shorter than in controls
• zone is elongated; elongation is prominent at 2-3 weeks of age, and is less evident in older animals
• bones are shorter than in controls
• femur length is 10-15% shorter than controls
• 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
• beginning at 8 weeks, animals have less cortical bone
• beginning at 8 weeks, animals have less trabecular bone
• bone mass of femur is decreased compared to controls
• animals show high-turnover type osteoporosis (characterized by increased osteoclast and osteoblast activities by about 8 weeks of age)
• 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

vision/eye
• mice are born with their eyes open

integument
• mice have hair defects
• mice show skin defects




Genotype
MGI:6241555
cn4
Allelic
Composition
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Il17atm1Yiw/Il17atm1Yiw
Sox9tm3(cre)Crm/Sox9+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.2Bbl mutation (1 available); any Adam17 mutation (64 available)
Il17atm1Yiw mutation (0 available); any Il17a mutation (25 available)
Sox9tm3(cre)Crm mutation (1 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice develop eczematous dermatitis

integument
• mice develop eczematous dermatitis




Genotype
MGI:6241556
cn5
Allelic
Composition
Adam17tm1.2Bbl/Adam17tm1.2Bbl
Il23atm1Dnax/Il23atm1Dnax
Sox9tm3(cre)Crm/Sox9+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adam17tm1.2Bbl mutation (1 available); any Adam17 mutation (64 available)
Il23atm1Dnax mutation (0 available); any Il23a mutation (27 available)
Sox9tm3(cre)Crm mutation (1 available); any Sox9 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice develop eczematous dermatitis

integument
• mice develop eczematous dermatitis





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory