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Allele : Thrb<tm6.1Few> thyroid hormone receptor beta; targeted mutation 6.1, Fredric E Wondisford
Primary Identifier  MGI:3849878 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Thrb
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Thrb<R429Q>,
  • Thrb<R429Q>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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