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| Nomenclature |
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Symbol:
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Hfe2tm1Nca
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Name:
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hemochromatosis type 2 (juvenile) (human homolog);
targeted mutation 1, Nancy C Andrews
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MGI ID: |
MGI:3587746 |
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Synonyms: |
Hfe2-, 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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Histological examination of iron loading in Hfe2tm1Nca/Hfe2tm1Nca 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:100178
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Parent Cell Line:
| J1 (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 (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 3 and the coding sequence in exon 4 were replaced upon the insertion of a floxed neo cassette, therefore deleting most of the coding sequence for the protein. (J:100178)
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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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| References |
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Original: |
J:100178
Huang FW et al.,
"A mouse model of juvenile hemochromatosis."
J Clin Invest 2005 Aug 1;115(8):2187-2191
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All: |
9 reference(s)
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