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This transgene consists of the human transthyretin gene containing a single base substitution, T to C, in exon 3 corresponding to a leucine to proline amino acid substitution at position 55 under the control of the endogenous promoter. This line carries a single copy of the mutant gene. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:68458)
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
