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Targeted Allele Detail
Symbol: Thrbtm2Few
Name: thyroid hormone receptor beta; targeted mutation 2, Frederic E Wondisford
MGI ID: MGI:2183367
Synonyms: TRbetadelta337T
Gene: Thrb  Location: Chr14:17660960-18038086 bp, + strand  Genetic Position: Chr14, 7.08 cM, cytoband A3
Germline Transmission:  Earliest citation of germline transmission: J:77623
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe deletion of 3 base pairs in exon 6, corresponding to a deletion that results in thyroid horomone resistance in humans, was introduced via site-directed mutagenesis along with a neomycin selection cassette inserted into intron 5. The mutation in exon 6 affects the ligand-binding domain which is common to both isoforms produced from this locus. Presence of the mutation was confirmed via an RNAse protection assay and sequence analysis. (J:77623)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 5 assay results
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:  23 strains or lines available
Original:  J:77623 Hashimoto K, et al., An unliganded thyroid hormone receptor causes severe neurological dysfunction. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3998-4003
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory