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| Nomenclature |
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Symbol:
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Hfetm1.1Wsr
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Name:
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hemochromatosis;
targeted mutation 1.1, Wolfgang Stremmel
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MGI ID: |
MGI:3775648 |
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Synonyms: |
Hfe-KO |
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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:132141
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Parent Cell Line:
| E14.1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Mice carrying the mutant Hfe allele were crossed with a Cre deleter strain. Offspring mice retain the neomycin resistance cassette but lack exons 3-5 that encode for the alpha-2, the alpha-3 and transmembrane domains. RT-PCR revealed an abberant splace transcript that connects exon 2 to exon 6. Immunoblots on liver extracts demonstrated that no protein is produced from the mutant allele. (J:132141)
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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:132141
Herrmann T et al.,
"Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin."
J Mol Med 2004 Jan;82(1):39-48
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All: |
6 reference(s)
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Analysis Tools
