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Targeted Allele Detail
Symbol: Fbn1tm1Hcd
Name: fibrillin 1; targeted mutation 1, Harry C Dietz
MGI ID: MGI:3690325
Synonyms: Fbn1C1037G, Fbn1C1039G
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Germline Transmission:  Earliest citation of germline transmission: J:91349
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsSite-directed mutagenesis was used to create a single G->T base pair alteration in the mouse gene resulting in a Cys->Gly change at amino acid 1037 (previously identified in the literature as C1039G). This corresponds with the human C1039Y mutation. The floxed neo selection cassette was removed by crossing to a ubiquitously expressing Cre mouse line. (J:91349)
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Fbn1 Mutation:  6 strains or lines available
Original:  J:91349 Judge DP, et al., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004 Jul;114(2):172-81
All:  19 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
The Jackson Laboratory