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Fbn1tm2Rmz
Targeted Allele Detail
Nomenclature
Symbol: Fbn1tm2Rmz
Name: fibrillin 1; targeted mutation 2, Francesco Ramirez
MGI ID: MGI:1934906
Synonyms: Fbn1mgR, mgR
Gene: Fbn1  Location: Chr2:125300594-125507993 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.

Mutation
origin
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+
Mutation
description
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 onmRNA 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  6 strains or lines available
References
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:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory