Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Hfetm1Jrco
Name:	homeostatic iron regulator; hemochromatosis; targeted mutation 1, James Connor
MGI ID:	MGI:5563672
Synonyms:	Hfetm1(H67D)Jrco
Gene:	Hfe  Location: Chr13:23886017-23894837 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Alliance:	Hfetm1Jrco page

Germline Transmission:	Earliest citation of germline transmission: J:201948
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Not Specified) Mutations:    Insertion, Single point mutation   Mutation details: Exon 2 was replaced with a modified exon 2 in which a C to G point mutation results in the amino acid substitution of aspartic acid for histidine at position 67 (p.H67D). The mutation recapitulates the human mutation, p.H63D, observed in many patients with hereditary hemochromatosis (HH). A loxP site flanked neomycin resistance gene cassette was inserted into intron 2. (J:101977, J:201948)

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 Hfe Mutation:	34 strains or lines available

Original:	J:201948 Nandar W, et al., A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice. Biochim Biophys Acta. 2013 Jun;1832(6):729-41
All:	5 reference(s)