| First Author | Boulechfar S | Year | 1993 |
| Journal | Genomics | Volume | 16 |
| Issue | 3 | Pages | 645-8 |
| PubMed ID | 8325637 | Mgi Jnum | J:12757 |
| Mgi Id | MGI:60976 | Doi | 10.1006/geno.1993.1242 |
| Citation | Boulechfar S, et al. (1993) Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics 16(3):645-8 |
| abstractText | The molecular basis of an inherited defect of ferrochelatase in mouse (Fechm1Pas/Fechm1Pas, described by Tutois et al., 1991, J. Clin. Invest. 88:1730-1736) was investigated. cDNA clones encoding ferrochelatase, isolated by amplification of the mRNA from the liver of a mutant mouse using the polymerase chain reaction, were sequenced by the dideoxynucleotide chain-termination method. All the clones carried a T to A transversion at nucleotide 293, leading to a methionine to lysine substitution at position 98 in the protein (mutation M98K). Hybridization with allele-specific oligonucleotides (ASOs) confirmed the mutation at the cDNA and genomic levels. Finally, expression of the mutant ferrochelatase protein in E. coli demonstrated a marked deficiency in activity in agreement with the activity of the deficient enzyme in vivo. This Fechm1Pas/Fechm1Pas mutant mouse represents a useful model for studying the pathophysiological feature of the human disease and the first accessible model for gene therapy in the field of porphyrias. |
