Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fbn1tm2Rmz Name: fibrillin 1; targeted mutation 2, Francesco Ramirez MGI ID: MGI:1934906 Synonyms: Fbn1mgR, mgR Gene: Fbn1  Location: Chr2:125142514-125348417 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F Alliance: Fbn1tm2Rmz page

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 details: An 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).

In Structures Affected by this Mutation:

17 anatomical structure(s)

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:	171 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:	48 reference(s)