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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fbn1tm3Rmz
targeted mutation 3, Francesco Ramirez
MGI:3641232
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fbn1tm3Rmz/Fbn1tm3Rmz involves: C57BL/6 MGI:4850048
hm2
Fbn1tm3Rmz/Fbn1tm3Rmz Not Specified MGI:3652414
cn3
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(CMV-cre)1Cgn/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * BALB/cJ * C57BL/6J MGI:5439643
cn4
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CD-1 MGI:5439642
cn5
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Prrx1-cre)1Cjt/0
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J MGI:5439641
cx6
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129 MGI:3652415
cx7
Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
involves: 129 MGI:3652417


Genotype
MGI:4850048
hm1
Allelic
Composition
Fbn1tm3Rmz/Fbn1tm3Rmz
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts (J:166786)
• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts (J:166786)




Genotype
MGI:3652414
hm2
Allelic
Composition
Fbn1tm3Rmz/Fbn1tm3Rmz
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
phenotype observed in females
phenotype observed in males
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)
• 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 (J:110586)
• the elastic lamellae appear thin and disorganized beginning between P10 and P14 (J:110586)
• abnormalities in the lamellar unit are seen both inside and outside of the aortic aneurysm (J:110586)
• the elastic lamellae appear thin and disorganized beginning between P10 and P14 (J:110586)
• fibers have an abnormal wavy, thin appearance and are fragmented and discontinuous within the aneurysm (J:110586)
• fibers have an abnormal wavy, thin appearance and are fragmented and discontinuous within the aneurysm (J:110586)
• ruptured aortic aneurysm involving the ascending aorta (J:110586)
• 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 (J:110586)
• detachment of the endothelial lining is seen in pre- and post-mortem mice (J:110586)
• detachment of the endothelial lining is seen in pre- and post-mortem mice (J:110586)
• ruptured aortic aneurysm involving the ascending aorta (J:110586)
• 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 (J:110586)

respiratory system
• impaired pulmonary function (J:110586)
• impaired pulmonary function (J:110586)

skeleton
• malformed (J:110586)
• malformed (J:110586)

other phenotype
• unusually fragile internal organs upon manipulation of the carcass (J:110586)
• unusually fragile internal organs upon manipulation of the carcass (J:110586)

muscle
• collapse of the diaphragm may occur (J:110586)
• collapse of the diaphragm may occur (J:110586)
• thinner (J:110586)
• thinner (J:110586)

homeostasis/metabolism

integument
• fragile skin (J:110586)
• fragile skin (J:110586)

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




Genotype
MGI:5439643
cn3
Allelic
Composition
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(CMV-cre)1Cgn/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1.1Itl mutation (0 available); any Fbn1 mutation (6 available)
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
Tg(CMV-cre)1Cgn mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by P16 (J:187484)
• by P16 (J:187484)

cardiovascular system

respiratory system

homeostasis/metabolism




Genotype
MGI:5439642
cn4
Allelic
Composition
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1.1Itl mutation (0 available); any Fbn1 mutation (6 available)
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• increased trabecular space (J:187484)
• increased trabecular space (J:187484)
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes (J:187484)
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes (J:187484)




Genotype
MGI:5439641
cn5
Allelic
Composition
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1.1Itl mutation (0 available); any Fbn1 mutation (6 available)
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
Tg(Prrx1-cre)1Cjt mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• increased trabecular space (J:187484)
• increased trabecular space (J:187484)
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes (J:187484)
• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes (J:187484)

hematopoietic system
• bone marrow stromal cells exhibit more colony forming unit fibroblast than wild-type cells (J:187484)
• bone marrow stromal cells exhibit more colony forming unit fibroblast than wild-type cells (J:187484)




Genotype
MGI:3652415
cx6
Allelic
Composition
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

mortality/aging
• almost all die after E14.5 (J:110586)
• almost all die after E14.5 (J:110586)

cardiovascular system
• impaired or delayed elastogenesis in the medial layer of the aorta (J:110586)
• impaired or delayed elastogenesis in the medial layer of the aorta (J:110586)




Genotype
MGI:3652417
cx7
Allelic
Composition
Fbn1tm3Rmz/Fbn1+
Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (6 available)
Fbn2tm1Rmz mutation (0 available); any Fbn2 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

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

mortality/aging
• about 50% die after E14.5 (J:110586)
• about 50% die after E14.5 (J:110586)

cardiovascular system
• at E14.5 expression analysis indicates impaired or delayed matrix assembly in the medial layer of the aorta (J:110586)
• at E14.5 expression analysis indicates impaired or delayed matrix assembly in the medial layer of the aorta (J:110586)





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory