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Thrbtm2Few
Targeted Allele Detail
Summary
Symbol: Thrbtm2Few
Name: thyroid hormone receptor beta; targeted mutation 2, Frederic E Wondisford
MGI ID: MGI:2183367
Synonyms: TRbetadelta337T
Gene: Thrb  Location: Chr14:4431611-4809435 bp, - strand  Genetic Position: Chr14, 7.08 cM, cytoband A3
Alliance: Thrbtm2Few page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77623
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe deletion of 3 base pairs (GRCm39:chr14:4439427_4439429delGTG, p.T337del) in exon 9, 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 8. The mutation affects the ligand-binding domain in the encoded peptide, which is common to both isoforms produced from this locus. (J:77623)
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: 5 assay results
In Structures Affected by this Mutation: 4 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: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:  7 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
03/12/2024
MGI 6.23
The Jackson Laboratory