hm1

Fbn1^tm3Rmz/Fbn1^tm3Rmz
involves: C57BL/6

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	EuPh	Europhenome
N	normal phenotype

skeleton

abnormal bone remodeling ( J:166786 )

• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts

Fbn1^tm3Rmz/Fbn1^tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

mortality/aging

complete postnatal lethality ( J:110586 , J:187484 )

• all die within 2 weeks of birth (J:110586)

cardiovascular system

abnormal aorta elastic tissue morphology ( J:110586 )

• abnormalities in the lamellar unit are seen both inside and outside of the aortic aneurysm

• the elastic lamellae appear thin and disorganized beginning between P10 and P14

abnormal aorta elastic fiber morphology ( J:110586 )

• fibers have an abnormal wavy, thin appearance and are fragmented and discontinuous within the aneurysm

aortic aneurysm ( J:110586 )

• ruptured aortic aneurysm involving the ascending aorta

• lamellar unit of the medial layer are disorganized and vascular smooth muscle cells have lost contact with neighboring cells and have a disorganized extracellular matrix within the aneurysm

• detachment of the endothelial lining is seen in pre- and post-mortem mice

hemopericardium ( J:110586 )

hemothorax ( J:110586 )

respiratory system

hemothorax ( J:110586 )

overexpanded pulmonary alveoli ( J:110586 )

abnormal respiration ( J:110586 )

• impaired pulmonary function

skeleton

abnormal rib morphology ( J:110586 )

• malformed

long ribs ( J:110586 )

other phenotype

other aberrant phenotype ( J:110586 )

• unusually fragile internal organs upon manipulation of the carcass

muscle

abnormal diaphragm morphology ( J:110586 )

• collapse of the diaphragm may occur

herniated diaphragm ( J:110586 )

abnormal intercostal muscle morphology ( J:110586 )

• thinner

homeostasis/metabolism

hemopericardium ( J:110586 )

integument

abnormal skin tensile strength ( J:110586 )

• fragile skin

Mouse Models of Human Disease		OMIM ID	Ref(s)
Marfan Syndrome; MFS		154700	J:110586

cn3

Fbn1^tm1.1Itl/Fbn1^tm3Rmz
Tg(CMV-cre)1Cgn/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * BALB/cJ * C57BL/6J

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	EuPh	Europhenome
N	normal phenotype

mortality/aging

complete postnatal lethality ( J:187484 )

• by P16

cardiovascular system

ascending aorta dilation ( J:187484 )

hemopericardium ( J:187484 )

hemothorax ( J:187484 )

respiratory system

hemothorax ( J:187484 )

homeostasis/metabolism

hemopericardium ( J:187484 )

cn4

Fbn1^tm1.1Itl/Fbn1^tm3Rmz
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CD-1

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	EuPh	Europhenome
N	normal phenotype

skeleton

decreased bone mineral density ( J:187484 )

decreased bone volume ( J:187484 )

abnormal trabecular bone morphology ( J:187484 )

• increased trabecular space

abnormal bone trabecula morphology ( J:187484 )

• worse trabeculae morphology compared with Fbn1^tm2Rmz homozygotes

decreased bone trabecula number ( J:187484 )

decreased trabecular bone thickness ( J:187484 )

decreased bone mass ( J:187484 )

cn5

Fbn1^tm1.1Itl/Fbn1^tm3Rmz
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	EuPh	Europhenome
N	normal phenotype

skeleton

decreased bone mineral density ( J:187484 )

decreased bone volume ( J:187484 )

abnormal trabecular bone morphology ( J:187484 )

• increased trabecular space

abnormal bone trabecula morphology ( J:187484 )

• worse trabeculae morphology compared with Fbn1^tm2Rmz homozygotes

decreased bone trabecula number ( J:187484 )

decreased trabecular bone thickness ( J:187484 )

decreased bone mass ( J:187484 )

hematopoietic system

abnormal bone marrow cell morphology/development ( J:187484 )

• bone marrow stromal cells exhibit more colony forming unit fibroblast than wild-type cells

cx6

Fbn1^tm3Rmz/Fbn1^tm3Rmz
Fbn2^tm1Rmz/Fbn2^tm1Rmz
involves: 129

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	EuPh	Europhenome
N	normal phenotype

Fbn1^tm3Rmz/Fbn1^tm3Rmz Fbn2^tm1Rmz/Fbn2^tm1Rmz and Fbn1^tm3Rmz/Fbn1⁺ Fbn2^tm1Rmz/Fbn2^tm1Rmz mice show poor organization of the aorta wall

mortality/aging

complete lethality throughout fetal growth and development ( J:110586 )

• almost all die after E14.5

cardiovascular system

abnormal aorta tunica media morphology ( J:110586 )

• impaired or delayed elastogenesis in the medial layer of the aorta

cx7

Fbn1^tm3Rmz/Fbn1⁺
Fbn2^tm1Rmz/Fbn2^tm1Rmz
involves: 129

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	EuPh	Europhenome
N	normal phenotype

Fbn1^tm3Rmz/Fbn1^tm3Rmz Fbn2^tm1Rmz/Fbn2^tm1Rmz and Fbn1^tm3Rmz/Fbn1⁺ Fbn2^tm1Rmz/Fbn2^tm1Rmz mice show poor organization of the aorta wall

mortality/aging

partial lethality throughout fetal growth and development ( J:110586 )

• about 50% die after E14.5

cardiovascular system

abnormal aorta tunica media morphology ( J:110586 )

• at E14.5 expression analysis indicates impaired or delayed matrix assembly in the medial layer of the aorta