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The constitutive and ubiquitous human PGK1 promoter drives the expression of the human cDNA bearing the 498-499InsTC mutation causing the substitution of the last 9 amino acids and an elongation of extra 16 amino acids at the C-terminus of L-ferritin peptide. This modification reduces the ability of the protein to store iron. ELISA and Immunoblotting confirm high expression of the transgene in the liver and brain. Although three lines were obtained, only one was used for further analysis. However, line numbers were not identified and the pound (#) symbol is used because the line number is not specified. (J:227451)
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
