Fech^{tm1.1(FECH*)Emi}
Targeted Allele Detail

Summary

• Symbol: Fech^{tm1.1(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: Fech^{tm1.1(FECH*)Emi} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:239515
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion, Single point mutation
• Fech^{tm1.1(FECH*)Emi} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  FECH (2235)

  Fech	(MGI:95513)

  intronic T to C substitution (c.315-48C)

• Mutation details: 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. (J:239515)

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: 24 strains or lines available

References

• 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)