Mouse Genome Informatics
hm1
    Fbn1tm3Rmz/Fbn1tm3Rmz
involves: C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts


Mouse Genome Informatics
hm2
    Fbn1tm3Rmz/Fbn1tm3Rmz
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Fbn1tm3Rmz/Fbn1tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

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

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

respiratory system
• impaired pulmonary function

skeleton

other phenotype
• unusually fragile internal organs upon manipulation of the carcass

muscle
• collapse of the diaphragm may occur

homeostasis/metabolism

integument

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


Mouse Genome Informatics
cn3
    Fbn1tm1.1Itl/Fbn1tm3Rmz
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

cardiovascular system

respiratory system

homeostasis/metabolism


Mouse Genome Informatics
cn4
    Fbn1tm1.1Itl/Fbn1tm3Rmz
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
• increased trabecular space
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes


Mouse Genome Informatics
cn5
    Fbn1tm1.1Itl/Fbn1tm3Rmz
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
• increased trabecular space
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes

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


Mouse Genome Informatics
cx6
    Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz

involves: 129
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Fbn1tm3Rmz/Fbn1tm3Rmz Fbn2tm1Rmz/Fbn2tm1Rmz and Fbn1tm3Rmz/Fbn1+ Fbn2tm1Rmz/Fbn2tm1Rmz mice show poor organization of the aorta wall

mortality/aging

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


Mouse Genome Informatics
cx7
    Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz

involves: 129
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Fbn1tm3Rmz/Fbn1tm3Rmz Fbn2tm1Rmz/Fbn2tm1Rmz and Fbn1tm3Rmz/Fbn1+ Fbn2tm1Rmz/Fbn2tm1Rmz mice show poor organization of the aorta wall

mortality/aging

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