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Targeted Allele Detail
Symbol: Hfetm1.1Wsr
Name: hemochromatosis; targeted mutation 1.1, Wolfgang Stremmel
MGI ID: MGI:3775648
Synonyms: Hfe-KO
Gene: Hfe  Location: Chr13:23702034-23710854 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Germline Transmission:  Earliest citation of germline transmission: J:132141
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsMice 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Hfe Mutation:  11 strains or lines available
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
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory