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Allele : Hfe<tm1Jrco> homeostatic iron regulator; hemochromatosis; targeted mutation 1, James Connor

Primary Identifier  MGI:5563672 Allele Type  Targeted
Attribute String  Not Specified Gene  Hfe
Transmission  Germline Strain of Origin  129X1/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 2 was replaced with a modified exon 2 in which a C to G point mutation results in the amino acid substitution of aspartic acid for histidine at position 67 (p.H67D). The mutation recapitulates the human mutation, p.H63D, observed in many patients with hereditary hemochromatosis (HH). A loxP site flanked neomycin resistance gene cassette was inserted into intron 2.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Hfe<tm1(H67D)Jrco>,
  • Hfe<tm1(H67D)Jrco>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

8 Publication categories