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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Fbn1tm3.1Hcd
targeted mutation 3.1, Harry C Dietz
MGI:5558868
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Fbn1tm3.1Hcd/Fbn1tm3.1Hcd involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:5558884
ht2
 		Fbn1tm3.1Hcd/Fbn1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N MGI:5558880
cx3
 		Fbn1tm3.1Hcd/Fbn1+
Itgb3tm1Hyn/Itgb3+ 		involves: 129S * 129X1/SvJ * C57BL/6J * FVB/N MGI:5558883


Genotype
MGI:5558884
hm1
Allelic
Composition		 Fbn1tm3.1Hcd/Fbn1tm3.1Hcd
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3.1Hcd mutation (1 available); any Fbn1 mutation (171 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
skin fibrosis ( J:206074 )
• accelerated compared to in heterozygotes




Genotype
MGI:5558880
ht2
Allelic
Composition		 Fbn1tm3.1Hcd/Fbn1+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3.1Hcd mutation (1 available); any Fbn1 mutation (171 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
increased B cell number ( J:206074 )
• infiltration of activated B cells and plasma cells in the dermis
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
increased plasma cell number ( J:206074 )
• infiltration of activated B cells and plasma cells in the dermis
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
abnormal T-helper 1 cell morphology ( J:206074 )
• dermal polarization towards pro-inflammatory T helper cells
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
abnormal interleukin secretion ( J:206074 )
• increased IL9, IL13 and IL22 in CD3+ dermal cells
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
increased interleukin-13 secretion ( J:206074 )
• in CD3+ dermal cells
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
increased interleukin-9 secretion ( J:206074 )
• in CD3+ dermal cells
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
increased autoantibody level ( J:206074 )
• increased anti-nuclear and anti-topoisomerase I antibody levels
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
increased anti-nuclear antigen antibody level ( J:206074 )
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating

integument
decreased subcutaneous adipose tissue amount ( J:206074 )
• by 3 months
• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody
abnormal cutaneous collagen fibril morphology ( J:206074 )
• increased by 1 month
• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody
abnormal dermal layer morphology ( J:206074 )
• disorganized and excessive microfibrillar aggregates in the dermis with sparsely distributed elastin
• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody
abnormal skin turgor ( J:206074 )
• decreased skin stretching (stiff skin)
• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

adipose tissue
decreased subcutaneous adipose tissue amount ( J:206074 )
• by 3 months
• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

hematopoietic system
increased B cell number ( J:206074 )
• infiltration of activated B cells and plasma cells in the dermis
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
increased plasma cell number ( J:206074 )
• infiltration of activated B cells and plasma cells in the dermis
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating
abnormal T-helper 1 cell morphology ( J:206074 )
• dermal polarization towards pro-inflammatory T helper cells
• however, auto-antibody levels are normalized by treatment with an integrin beta1 activating

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
systemic scleroderma DOID:418 OMIM:181750
 J:206074




Genotype
MGI:5558883
cx3
Allelic
Composition		 Fbn1tm3.1Hcd/Fbn1+
Itgb3tm1Hyn/Itgb3+
Genetic
Background		 involves: 129S * 129X1/SvJ * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3.1Hcd mutation (1 available); any Fbn1 mutation (171 available)
Itgb3tm1Hyn mutation (6 available); any Itgb3 mutation (43 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
integument phenotype ( J:206074 )
N
• skin stiffness and collagen deposition are normalized at 3 months
abnormal cutaneous collagen fibril morphology ( J:206074 )
• increased collagen in the dermis of some mice at 5 months as in Itgb3-deficient mice
thick dermal layer ( J:206074 )
• in some mice at 5 months as in Itgb3-deficient mice
epidermal hyperplasia ( J:206074 )
• focal in some mice at 5 months as in Itgb3-deficient mice




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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory