Phenotypes associated with this allele

• Allele Symbol: Fbn1^tm3Rmz
• Allele Name: targeted mutation 3, Francesco Ramirez
• Allele ID: MGI:3641232
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbn1^tm3Rmz/Fbn1^tm3Rmz	involves: C57BL/6	MGI:4850048
hm2	Fbn1^tm3Rmz/Fbn1^tm3Rmz	Not Specified	MGI:3652414
cn3	Fbn1^tm1.1Itl/Fbn1^tm3Rmz Tg(CMV-cre)1Cgn/0	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * BALB/cJ * C57BL/6J	MGI:5439643
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	MGI:5439642
cn5	Fbn1^tm1.1Itl/Fbn1^tm3Rmz Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * SJL/J	MGI:5439641
cx6	Fbn1^tm3Rmz/Fbn1^tm3Rmz Fbn2^tm1Rmz/Fbn2^tm1Rmz	involves: 129	MGI:3652415
cx7	Fbn1^tm3Rmz/Fbn1^+ Fbn2^tm1Rmz/Fbn2^tm1Rmz	involves: 129	MGI:3652417

Genotype
MGI:4850048

hm1

• Allelic Composition: Fbn1^tm3Rmz/Fbn1^tm3Rmz
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• 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

Genotype
MGI:3652414

hm2

• Allelic Composition: Fbn1^tm3Rmz/Fbn1^tm3Rmz
• Genetic Background: Not Specified

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

mortality/aging

postnatal lethality, complete penetrance ( 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

ascending aorta 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 alveolus ( J:110586 )

decreased respiration ( J:110586 )

• impaired pulmonary function

skeleton

abnormal rib morphology ( J:110586 )

• malformed

long ribs ( J:110586 )

muscle

abnormal diaphragm morphology ( J:110586 )

• collapse of the diaphragm may occur

diaphragmatic hernia ( 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		DO ID	OMIM ID(s)	Ref(s)
heart disease		DOID:114		J:110586
Marfan syndrome		DOID:14323	OMIM:154700	J:110586

Genotype
MGI:5439643

cn3

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

mortality/aging

postnatal lethality, complete penetrance ( J:187484 )

• by P16

cardiovascular system

dilated ascending aorta ( J:187484 )

hemopericardium ( J:187484 )

hemothorax ( J:187484 )

respiratory system

hemothorax ( J:187484 )

homeostasis/metabolism

hemopericardium ( J:187484 )

Genotype
MGI:5439642

cn4

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

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 )

Genotype
MGI:5439641

cn5

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

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

Genotype
MGI:3652415

cx6

• Allelic Composition: Fbn1^tm3Rmz/Fbn1^tm3Rmz; Fbn2^tm1Rmz/Fbn2^tm1Rmz
• Genetic Background: involves: 129

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

lethality throughout fetal growth and development, complete penetrance ( 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

Genotype
MGI:3652417

cx7

• Allelic Composition: Fbn1^tm3Rmz/Fbn1⁺; Fbn2^tm1Rmz/Fbn2^tm1Rmz
• Genetic Background: involves: 129

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

lethality throughout fetal growth and development, incomplete penetrance ( 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