| Primary Identifier | MGI:6188968 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Hypomorph, Inserted expressed sequence | Gene | Fech |
| Transmission | Germline | Strain of Origin | B6.Cg-Thy1<a> |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Homologous recombination is used to a replace a region from the BspH1 site in exon 3 to BamH1 site in exon 4 of the mouse Fech gene with a 2.1 kb fragment from the human FECH gene that starts in exon 3 and ends in intron 4, followed by a loxP-flanked PGK neomycin cassette in the reverse orientation. The human FECH fragment contains a intronic c.315-48C polymorphism (substitution of C for T, also described as IVS3-48C), which creates an aberrant 3' splice site 63 nucleotides upstream of the normal site for exon 4, and is associated with erythropoietic protoporphyria (EPP). Cre-mediated recombination removed the downstream floxed neo cassette. |
