| Primary Identifier | MGI:2385350 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Hypomorph | Gene | Hfe |
| Transmission | Germline | Strain of Origin | 129S6/SvEvTac |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | This hypomorphic allele was generated by targeting exon 4 with a c.881G>A substitution, which causes a cysteine to tyrosine missense mutation at codon 294 (p.C294Y). This mutation is the equivalent of the p.C282Y mutation found in human hereditary hemochromatosis (HE) patients. The substitution disrupts an intramolecular disulfide bond and putatively affects Beta2-microglobulin binding. RT-PCR analysis confirmed the presence of properly spliced transcript in mutant mice. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 4 was removed through cre-mediated recombination. |
