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Fbn1tm3Rmz
Targeted Allele Detail
Nomenclature
Symbol: Fbn1tm3Rmz
Name: fibrillin 1; targeted mutation 3, Francesco Ramirez
MGI ID: MGI:3641232
Synonyms: Fbn1-, mgN
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Fbn1tm3Rmz/Fbn1tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:110586
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Fbn1 Mutation:  4 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: bicuspid aortic valve with ascending aortic aneurysm (J:110586)

References
Original:  J:110586 Carta L, et al., Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J Biol Chem. 2006 Mar 24;281(12):8016-23
All:  6 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
07/15/2014
MGI 5.18
The Jackson Laboratory