A Tfrc cDNA containing a point mutation that resulted in the amino acid substitution of alanine for arginine at position 654 (R654A) was knocked into the ROSA locus along with a floxed neo cassette. The neo cassette was subsequently removed by germ-line, cre-mediated recombination. This point mutation prevents binding to Tf but does not alter the interaction with Hfe. (J:133221)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Nucleotide substitutions
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2

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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