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Thrbtm3Few
Targeted Allele Detail
Summary
Symbol: Thrbtm3Few
Name: thyroid hormone receptor beta; targeted mutation 3, Frederic E Wondisford
MGI ID: MGI:2676923
Synonyms: GS125 KI, TR-BetaGS
Gene: Thrb  Location: Chr14:4431611-4809435 bp, - strand  Genetic Position: Chr14, 7.08 cM, cytoband A3
Alliance: Thrbtm3Few page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:85158
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutation:    Nucleotide substitutions
 
Mutation detailsGlutamic acid codon 125 (GAA) in exon 3 was changed to glycine (GGA) (p.E125G) and glycine codon 126 (GGC) to serine (AGC) (p.G126S). The mutations are within the P-box of the first zinc finger of the encoded peptide and were shown, in vitro, to abolish DNA-binding while retaining the ability to interact with T3 and cofactors. A self-excising ACN cassette (loxP site + testis-specific ACE promoter driven cre gene + neomycin resistance gene cassette + loxP site) was inserted into intron 3. Western blot analysis showed endogenous levels of protein in homozygous mutant mice. (J:85158)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 5 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Thrb Mutation:  39 strains or lines available
References
Original:  J:85158 Shibusawa N, et al., Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. J Clin Invest. 2003 Aug;112(4):588-97
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory