Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Hfetm1.1Wsr
Name:	homeostatic iron regulator; targeted mutation 1.1, Wolfgang Stremmel
MGI ID:	MGI:3775648
Synonyms:	Hfe-KO
Gene:	Hfe  Location: Chr13:23886017-23894837 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Alliance:	Hfetm1.1Wsr page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	34 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:	8 reference(s)