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| Nomenclature |
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Symbol:
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Hfetm2Nca
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Name:
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hemochromatosis;
targeted mutation 2, Nancy C Andrews
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MGI ID: |
MGI:2385353 |
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Synonyms: |
Hfe- |
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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:78536
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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: A floxed neomycin selection cassette was inserted to delete a fragment containing both exonic and intronic sequence. (J:78536)
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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:78536
Levy JE et al.,
"The C282Y mutation causing hereditary hemochromatosis does not produce a null allele."
Blood 1999 Jul 1;94(1):9-11
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All: |
31 reference(s)
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Analysis Tools
