Phenotypes Associated with This Genotype

Genotype
MGI:5558879

• Allelic Composition: Fbn1^tm2.1Hcd/Fbn1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

• ♀: 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, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

increased plasma cell number ( J:206074 )

• nfiltration of activated B cells and plasma cells in the dermis

• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

abnormal T-helper 1 cell morphology ( J:206074 )

• dermal polarization towards pro-inflammatory T helper cells

• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

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, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

increased plasma cell number ( J:206074 )

• nfiltration of activated B cells and plasma cells in the dermis

• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

abnormal T-helper 1 cell morphology ( J:206074 )

• dermal polarization towards pro-inflammatory T helper cells

• however, skin condition is normalized by treatment with an integrin beta1 activating or TGF-beta-neutralizing antibody

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