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Targeted Allele Detail
Symbol: Hfetm1.1Nca
Name: hemochromatosis; targeted mutation 1.1, Nancy C Andrews
MGI ID: MGI:2385350
Synonyms: C282Y, Hfe845A, (Y)
Gene: Hfe  Location: Chr13:23702034-23710854 bp, - strand  Genetic Position: Chr13, 9.88 cM, cytoband A2-A4
Germline Transmission:  Earliest citation of germline transmission: J:78536
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Hypomorph)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA hypomorphic allele was generated by removing the floxed selection cassette from Hfetm1Nca, leaving the cytosine to tyrosine missense mutation at codon 282. 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. (J:78536)
View phenotypes for all genotypes (concatenated display).
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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:  11 strains or lines available
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:  8 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory