Fbn1tm1Rmz
Targeted Allele Detail
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Symbol: |
Fbn1tm1Rmz |
Name: |
fibrillin 1; targeted mutation 1, Francesco Ramirez |
MGI ID: |
MGI:1934905 |
Synonyms: |
mg delta |
Gene: |
Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
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Alliance: |
Fbn1tm1Rmz page
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Germline Transmission: |
Earliest citation of germline transmission:
J:43199
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Parent Cell Line: |
J1 (ES Cell)
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Strain of Origin: |
129S4/SvJae
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Fbn1 Mutation: |
171 strains or lines available
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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 |
All: |
9 reference(s) |
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