Exon 17 was replaced with one in which a nucleotide susbtitution resulted in an amino acid substitution of alanine for leucine at position 622 (L622A). A floxed neo cassette was also inserted downstream of exon 17 but was subsequently removed by germ-line, cre-mediated recombination. This mutation prevents binding to Hfe but does not interfer with binding to Tf. (J:133221)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
--
1
3
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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