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The promoter drives hepatocyte-specific of the mouse cDNA with nucleotide substitutions that results in the amino acid substitution of tyrosine for cysteine at position 294 (C294Y). This mutation correspond to the human C282Y disease-causing mutation. (J:167407)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
