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Targeted Allele Detail
Symbol: Fbn1tm2Rmz
Name: fibrillin 1; targeted mutation 2, Francesco Ramirez
MGI ID: MGI:1934906
Synonyms: Fbn1mgR, mgR
Gene: Fbn1  Location: Chr2:125300594-125506485 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Clinical view of wild-type and Fbn1tm2Rmz/Fbn1tm2Rmz littermates

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:54081
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Hypomorph)
Mutation:    Insertion
Mutation detailsAn unequal crossover event resulted in the insertion of a neomycin selection cassette into intron 18 with no loss of coding sequences. RT-PCR analysis confirmed that correctly spliced transcripts are produced from this allele. Northern blot analysis on mRNA derived from skin samples of homozygous mice demonstrated that transcript expression was reduced approximately five-fold. Immunoprecipitation experiments on fibroblasts isolated from homozygous mice confirmed that a protein was expressed from this allele at reduced levels compared to wild-type. This is a hypomorphic allele. (J:54081)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 19 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Fbn1 Mutation:  7 strains or lines available
Original:  J:54081 Pereira L, et al., Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3819-23
All:  23 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory