Hfe^tm1Sly
Targeted Allele Detail

Summary

• Symbol: Hfe^tm1Sly
• 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: Hfe^tm1Sly page

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 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 35 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: 41 reference(s)