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| Nomenclature |
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Symbol:
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Hfe2tm1Arbr
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Name:
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hemochromatosis type 2 (juvenile) (human homolog);
targeted mutation 1, Silvia Arber
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MGI ID: |
MGI:3587747 |
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Synonyms: |
Hjv- |
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Gene:
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Hfe2
Location:
Chr3:96525185-96529216 bp, + strand
Genetic Position: Chr3,
41.91 cM
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Iron accumulation in Hfe2tm1Arbr/Hfe2tm1Arbr mutant mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:100173
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: A targeting construct containing eGFP followed by IRES-NLS-lacZ-pA and thymidine kinase-neomycin (TK-neo) cassettes was integrated in frame into the second coding exon. (J:100173)
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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 Hfe2 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:100173
Niederkofler V et al.,
"Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload."
J Clin Invest 2005 Aug;115(8):2180-6
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All: |
4 reference(s)
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Analysis Tools
