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Targeted Allele Detail
Symbol: Fechtm1.1(FECH*)Emi
Name: ferrochelatase; targeted mutation 1.1, Elisabeth Minder
MGI ID: MGI:6188968
Synonyms: c.315-48C FECH, Emi
Gene: Fech  Location: Chr18:64589613-64622169 bp, - strand  Genetic Position: Chr18, 37.43 cM
Alliance: Fechtm1.1(FECH*)Emi page
Germline Transmission:  Earliest citation of germline transmission: J:239515
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Allele Type:    Targeted (Humanized sequence, Hypomorph, Inserted expressed sequence)
Mutations:    Insertion, Intragenic deletion, Single point mutation
Fechtm1.1(FECH*)Emi expresses 1 gene
Mutation detailsHomologous 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. (J:239515)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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 Fech Mutation:  15 strains or lines available
Original:  J:239515 Barman-Aksozen J, et al., Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. Dis Model Mech. 2017 Mar 01;10(3):225-233
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory