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Hfetm1Sly
Targeted Allele Detail
Nomenclature
Symbol: Hfetm1Sly
Name: hemochromatosis; targeted mutation 1, William S Sly
MGI ID: MGI:2181388
Synonyms: HFE-
Gene: Hfe  Location: Chr13:23702034-23710854 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:46169
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
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
Notes
Homozygous mutant mice display transferrin saturation.

References
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:  30 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
02/25/2015
MGI 5.21
The Jackson Laboratory