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Targeted Allele Detail
Symbol: Hfetm2Sly
Name: hemochromatosis; targeted mutation 2, William S Sly
MGI ID: MGI:3033459
Synonyms: Hfetm(H67D)Stl
Gene: Hfe  Location: Chr13:23702034-23710854 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Germline Transmission:  Earliest citation of germline transmission: J:88143
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Nucleotide substitutions
Mutation detailsA targeting vector was used to introduce a histidine to aspartic acid substitution mutation at codon 67 (H67D). A single loxP site remained in intron 3 after the cre-mediated excision of a floxed neo cassette from the germline. The mutation was designed to recapitulate the human mutation, H63D, observed in many patients with hereditary hemochromatosis. Northern blot and RT-PCR analyses indicated the expected mutant transcript is expressed at levels similar to that of wild-type. (J:88143)
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Disease models
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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:  12 strains or lines available
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:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
The Jackson Laboratory