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Arginine codon 429 (CGG) in exon 10 was replaced with glutamine (CAG) (p.R429Q). This mutation disrupts the corepressor binding domain as well as homodimerization and has been identified in patients with central resistance to thyroid hormone. A self-excising ACN cassette (loxP site + testis-specific ACE promoter driven cre gene + neomycin resistance gene cassette + loxP site) was inserted into intron 9. (J:150008)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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
