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

Symbol:	Fbn1tm2.1Hcd
Name:	fibrillin 1; targeted mutation 2.1, Harry C Dietz
MGI ID:	MGI:5558867
Synonyms:	Fbn1D1545E
Gene:	Fbn1  Location: Chr2:125142514-125348417 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Alliance:	Fbn1tm2.1Hcd page

Germline Transmission:	Earliest citation of germline transmission: J:206074
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Not Applicable) Mutations:    Insertion, Nucleotide substitutions   Mutation details: Exon 38 was replaced with a floxed neomycin resistance cassette and a modified exon 38 in which nucleotide substitutions result in the amino acid substitution of glutamic acid for aspartic acid at position 1545 (D1545E). This mutation destroys the integrin binding site. Cre-mediated recombination removed the selection cassette. (J:206074)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 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:206074 Gerber EE, et al., Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature. 2013 Nov 7;503(7474):126-30
All:	1 reference(s)