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| Nomenclature |
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Symbol:
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Fbn1tm3Rmz
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Name:
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fibrillin 1;
targeted mutation 3, Francesco Ramirez
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MGI ID: |
MGI:3641232 |
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Synonyms: |
Fbn1-, mgN |
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Gene:
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Fbn1
Location:
Chr2:125300594-125507993 bp, - strand
Genetic Position: Chr2,
61.38 cM, cytoband F
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Fbn1tm3Rmz/Fbn1tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:110586
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A targeting vector was designed to replace 700 bp of exon 1, including the ATG codon and the signal peptide coding sequene, with an IRES-hAP-neo cassette. Northern and Western blot confirmed ablation of the locus. (J:110586)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fbn1 Mutation:
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4 strains or lines available |
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Notes |
Phenotypic Similarity to Human Syndrome: bicuspid aortic valve with ascending aortic aneurysm (J:110586)
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| References |
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Original: |
J:110586
Carta L et al.,
"Fibrillins 1 and 2 perform partially overlapping functions during aortic development."
J Biol Chem 2006 Mar 24;281(12):8016-23
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All: |
6 reference(s)
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Analysis Tools
