Hfe^tm3Sly
Targeted Allele Detail

Summary

• Symbol: Hfe^tm3Sly
• Name: homeostatic iron regulator; targeted mutation 3, William S Sly
• MGI ID: MGI:3033462
• Synonyms: Hfe^tm(C294Y)Stl
• Gene: Hfe Location: Chr13:23886017-23894837 bp, - strand Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
• Alliance: Hfe^tm3Sly page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:88143
• Parent Cell Line: RW-4 (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: 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. (J:88143)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:88143 Tomatsu S, et al., Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15788-93
• All: 1 reference(s)