These mice harbor a p.Cys1041Gly mutation in the Fbn1 (fibrillin 1) gene similar to that which causes classic manifestations of Marfan syndrome in humans (Cys1039Tyr). Heterozygous mice develop proximal aortic aneurysms, mitral valve thickenings, pulmonary alveolar septation defects, mild thoracic kyphosis, and skeletal myopathy, but 90% reportedly live to one year of age.
Harry Dietz, Johns Hopkins Medical Institute
Genetic Background | Generation |
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N11F9
|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Humanized sequence) | Fbn1 | fibrillin 1 |
Starting at:
$255.00 Domestic price for female |
333.51 Domestic price for breeder pair |
Mice homozygous for this Fbn1 (fibrillin 1) Cys1041Gly missense mutation (previously identified as Cys1039Gly) are small and die before two weeks of age. A similar mutation in man (Cys1039Tyr) is known to cause classic manifestations of Marfan syndrome in humans. Heterozygous mice develop proximal aortic aneurysms, mitral valve thickenings, pulmonary alveolar septation defects, mild thoracic kyphosis, and skeletal myopathy, but 90% reportedly live to one year of age.
Site-directed mutagenesis was used to create a single G->T base pair alteration in the mouse gene resulting in a Cys->Gly change at amino acid 1041 (previously identified in the literature as C1039G). This corresponds with the human C1039Y mutation. The mutation was created in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. A loxP-flanked neomycin resistance cassette placed in intron 24 was excised through a cross with a CMV-cre mouse. This strain was backcrossed to C57BL/6 for more than nine generations by the donating laboratory.
Allele Name | targeted mutation 1, Harry C Dietz |
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Allele Type | Targeted (Humanized sequence) |
Allele Synonym(s) | Fbn1C1037G; Fbn1C1039G; Fbn1C1041G |
Gene Symbol and Name | Fbn1, fibrillin 1 |
Gene Synonym(s) | |
Promoter | Fbn1, fibrillin 1, mouse, laboratory |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 2 |
Molecular Note | Site-directed mutagenesis was used to create a single G->T base pair alteration in the mouse gene resulting in a Cys->Gly change at amino acid 1041 (previously identified in the literature as C1039G and C1037G). This corresponds with the human C1039Y mutation. The floxed neo selection cassette was removed by crossing to a ubiquitously expressing Cre mouse line. |
Mutations Made By | Harry Dietz, Johns Hopkins Medical Institute |
When maintained as a live colony, heterozygotes may be bred. Homozygotes die before two weeks of age.
When using the C1039G mouse strain in a publication, please cite the originating article(s) and include JAX stock #012885 in your Materials and Methods section.
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Fbn1<tm1Hcd> |
Frozen Mouse Embryo | B6.129-Fbn1<tm1Hcd>/J | $2595.00 |
Frozen Mouse Embryo | B6.129-Fbn1<tm1Hcd>/J | $2595.00 |
Frozen Mouse Embryo | B6.129-Fbn1<tm1Hcd>/J | $3373.50 |
Frozen Mouse Embryo | B6.129-Fbn1<tm1Hcd>/J | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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