Hfetm2Sly
Targeted Allele Detail
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Symbol: |
Hfetm2Sly |
Name: |
homeostatic iron regulator; targeted mutation 2, William S Sly |
MGI ID: |
MGI:3033459 |
Synonyms: |
Hfetm(H67D)Stl |
Gene: |
Hfe Location: Chr13:23886017-23894837 bp, - strand Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
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Alliance: |
Hfetm2Sly page
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Germline Transmission: |
Earliest citation of germline transmission:
J:88143
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Parent Cell Line: |
RW-4 (ES Cell)
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Strain of Origin: |
129X1/SvJ
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Allele Type: |
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Targeted (Humanized sequence) |
Mutation: |
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Nucleotide substitutions
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Mutation details: A targeting vector was used to introduce a histidine to aspartic acid substitution mutation at codon 67 (p.H67D). 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.H63D, observed in many 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Hfe Mutation: |
35 strains or lines available
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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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