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Targeted Allele Detail
Symbol: Fbn1tm1Rmz
Name: fibrillin 1; targeted mutation 1, Francesco Ramirez
MGI ID: MGI:1934905
Synonyms: mg delta
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Germline Transmission:  Earliest citation of germline transmission: J:43199
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes 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
Carrying any Fbn1 Mutation:  6 strains or lines available
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:  7 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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