Hfe^tm1.1Jrco
Targeted Allele Detail

Summary

• Symbol: Hfe^tm1.1Jrco
• Name: homeostatic iron regulator; targeted mutation 1.1, James Connor
• MGI ID: MGI:5516426
• Synonyms: H67D, Hfe^{tm1.1(H67D)Jrco}
• Gene: Hfe Location: Chr13:23886017-23894837 bp, - strand Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
• Alliance: Hfe^tm1.1Jrco page

Mutation origin

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

Mutation description

• 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). Cre-mediated recombination removed the loxP site flanked neomycin resistance cassette in intron 2. (J:201948)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Hfe Mutation: 35 strains or lines available

References

• 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)