Hfe^tm1.1Nca
Targeted Allele Detail

Summary

• Symbol: Hfe^tm1.1Nca
• Name: homeostatic iron regulator; targeted mutation 1.1, Nancy C Andrews
• MGI ID: MGI:2385350
• Synonyms: C282Y, Hfe^845A, (Y)
• Gene: Hfe Location: Chr13:23886017-23894837 bp, - strand Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
• Alliance: Hfe^tm1.1Nca page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:78536
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: This hypomorphic allele was generated by targeting exon 4 with a c.881G>A substitution, which causes a cysteine to tyrosine missense mutation at codon 294 (p.C294Y). This mutation is the equivalent of the p.C282Y mutation found in human hereditary hemochromatosis (HE) patients. The substitution disrupts an intramolecular disulfide bond and putatively affects Beta2-microglobulin binding. RT-PCR analysis confirmed the presence of properly spliced transcript in mutant mice. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 4 was removed through cre-mediated recombination. (J:78536)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: 1 strain available Cell Lines: 0 lines available
• Carrying any Hfe Mutation: 35 strains or lines available

References

• Original: J:78536 Levy JE, et al., The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood. 1999 Jul 1;94(1):9-11
• All: 9 reference(s)