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| Nomenclature |
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Symbol:
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Hfetm2Sly
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Name:
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hemochromatosis;
targeted mutation 2, William S Sly
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MGI ID: |
MGI:3033459 |
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Synonyms: |
Hfetm(H67D)Stl |
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Gene:
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Hfe
Location:
Chr13:23702034-23710854 bp, - strand
Genetic Position: Chr13,
9.88 cM, cytoband A2-A4
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Mutation
origin |
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Germline Transmission:
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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:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
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 (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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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hfe Mutation:
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10 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
