| Primary Identifier | MGI:4458417 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Modified isoform(s) | Gene | Tfr2 |
| Transmission | Germline | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| description | ES cell line = C14 |
| molecularNote | A lox P was inserted upstream of a modified exon 4 and a floxed neo cassette was inserted downstream of exon 6. The modified exon 4 contains a nucleotide substitution (T to A) that results in the amino acid substitution of lysine for methionine at position 167 (p.M167K). This mutation inactivates the translation initiation codon for the beta isoform. The corresponding mutation has been observed in human patients with Hemochromatosis, Type 3. Cre mediated recombination removed the neo cassette. The expression of the alpha isoform and the absence of expression of the beta isoform was confirmed by western blot analysis. |
