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| Nomenclature |
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Symbol:
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Fbn1tm1Rmz
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Name:
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fibrillin 1;
targeted mutation 1, Francesco Ramirez
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MGI ID: |
MGI:1934905 |
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Synonyms: |
mg delta |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:43199
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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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 neomycin selection cassette replaced a 6 kb genomic fragment containing exons 19-24, resulting in an in-frame deletion of coding sequences. Quantitative RT-PCR analysis on RNA derived from lungs, skin and skeletal muscles of homozygous mice demonstrated that a mutant transcript was produced from this allele, although approximately at ten-fold reduced levels compared to wild-type. Immunoprecipitation and immunocytochemistry experiments on fibroblasts isolated from homozygous mice confirmed that a shortened protein was made at reduced levels compared to wild-type. (J:43199)
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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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| References |
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Original: |
J:43199
Pereira L et al.,
"Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome."
Nat Genet 1997 Oct;17(2):218-22
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All: |
7 reference(s)
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Analysis Tools
