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This transgene consists of the human beta-actin promoter driving the expression of a human thyroid hormone beta1 receptor cDNA isolated from the PV kindred with Generalized Resistance to Thyroid Hormone containing a C-insertion at nucleotide 1627 (codon 443). This insertion results in a frame shift of the carboxy terminal 16 amino acids resulting in a total loss of T3-binding and transcriptional activation behaving as a dominant negative. Three founder lines were established: A,D, and G. Line D is a high expressor line. RT-PCR and immunohistochemistry confirmed expression of RNA and protein. (J:134187)
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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References Literature
Title
PMID
Journal
Year
IF
