| Primary Identifier | MGI:3033462 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Hfe |
| Transmission | Germline | Strain of Origin | 129X1/SvJ |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A targeting vector was used to introduce a cysteine to tyrosine substitution mutation at codon 294 (p.C294Y). A single loxP site remained in intron 3 after the cre-mediated excision of a loxP site flanked neomycin resistance gene cassette from the germline. The mutation was designed to recapitulate the human mutation, p.C282Y, observed in some patients with hereditary hemochromatosis (HH). Northern blot and RT-PCR analyses indicated the expected mutant transcript is expressed at levels similar to that of wild-type. |
