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

Symbol:	Hfetm1Sly
Name:	homeostatic iron regulator; targeted mutation 1, William S Sly
MGI ID:	MGI:2181388
Synonyms:	HFE-
Gene:	Hfe  Location: Chr13:23886017-23894837 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Alliance:	Hfetm1Sly page

Germline Transmission:	Earliest citation of germline transmission: J:46169
Parent Cell Line:	RW-4 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   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)

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

In Structures Affected by this Mutation:

1 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:	35 strains or lines available

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
All:	41 reference(s)