About   Help   FAQ
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 (173 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 (173 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 (173 available)
Itgb3tm1Hyn mutation (6 available); any Itgb3 mutation (45 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




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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory