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| Nomenclature |
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Symbol:
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Hfetm1Sly
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Name:
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hemochromatosis;
targeted mutation 1, William S Sly
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MGI ID: |
MGI:2181388 |
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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:46169
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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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The gene was disrupted by replacement of part of intron 3 and exon 4 with a PGK-neo cassette (in the reverse orientation) via homologous recombination. The normal 1.9 kb transcript was absent in the liver, kidney, and spleen of homozygous mutant mice as determined by Northern blot analysis. (J:46169)
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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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Notes |
Homozygous mutant mice display transferrin saturation.
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| References |
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Original: |
J:46169
Zhou XY et al.,
"HFE gene knockout produces mouse model of hereditary hemochromatosis [see comments]"
Proc Natl Acad Sci U S A 1998 Mar 3;95(5):2492-7
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All: |
29 reference(s)
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Analysis Tools
