About   Help   FAQ
Hfetm3Sly
Targeted Allele Detail
Summary
Symbol: Hfetm3Sly
Name: homeostatic iron regulator; targeted mutation 3, William S Sly
MGI ID: MGI:3033462
Synonyms: Hfetm(C294Y)Stl
Gene: Hfe  Location: Chr13:23886017-23894837 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Alliance: Hfetm3Sly page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:88143
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsA targeting vector was used to introduce a cysteine to tyrosine substitution mutation at codon 294 (p.C294Y). A single loxP site remained in intron 3 after the cre-mediated excision of a loxP site flanked neomycin resistance gene cassette from the germline. The mutation was designed to recapitulate the human mutation, p.C282Y, observed in some patients with hereditary hemochromatosis (HH). Northern blot and RT-PCR analyses indicated the expected mutant transcript is expressed at levels similar to that of wild-type. (J:88143)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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:  34 strains or lines available
References
Original:  J:88143 Tomatsu S, et al., Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15788-93
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory