Analysis Tools
skeleton
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• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts
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Allele Symbol Allele Name Allele ID |
Fbn1tm3Rmz targeted mutation 3, Francesco Ramirez MGI:3641232 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• isolated mutant preosteoclasts cultured with mutant osteoblasts exhibit augmented differentation and activity, indicating greater osteoclastogenic potential of osteoblasts
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| ♀ | 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
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• all die within 2 weeks of birth
(J:110586)
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• 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
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• fibers have an abnormal wavy, thin appearance and are fragmented and discontinuous within the aneurysm
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• 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
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• impaired pulmonary function
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• malformed
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• collapse of the diaphragm may occur
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• thinner
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• fragile skin
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by P16
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased trabecular space
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• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increased trabecular space
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• worse trabeculae morphology compared with Fbn1tm2Rmz homozygotes
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• bone marrow stromal cells exhibit more colony forming unit fibroblast than wild-type cells
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| ♀ | 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
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• almost all die after E14.5
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• impaired or delayed elastogenesis in the medial layer of the aorta
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| ♀ | 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
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• about 50% die after E14.5
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• at E14.5 expression analysis indicates impaired or delayed matrix assembly in the medial layer of the aorta
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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