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

Symbol:	Fbn1tm1Hcd
Name:	fibrillin 1; targeted mutation 1, Harry C Dietz
MGI ID:	MGI:3690325
Synonyms:	Fbn1C1037G, Fbn1C1039G, Fbn1C1041G
Gene:	Fbn1  Location: Chr2:125142514-125348417 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Alliance:	Fbn1tm1Hcd page

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 details: Site-directed mutagenesis creates a single T to G base pair alteration in the mouse gene resulting in a Cys to Gly change at amino acid 1041 (previously identified in the literature as C1039G and C1037G). 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 and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 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: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:	91 reference(s)