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Thrbtm1Df
Targeted Allele Detail
Summary
Symbol: Thrbtm1Df
Name: thyroid hormone receptor beta; targeted mutation 1, Douglas Forrest
MGI ID: MGI:1860434
Synonyms: Thrb-, TRbeta-
Gene: Thrb  Location: Chr14:4431611-4809435 bp, - strand  Genetic Position: Chr14, 7.08 cM, cytoband A3
Alliance: Thrbtm1Df page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:34421
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion of a neomycin cassette into exon 3, disrupts both the beta1 and beta2 isoforms of this gene. RT-PCR analysis identified a short transcript in homozygous mutant mice. Upon sequencing, this transcript revealed a deletion of exon 3 sequences, and fused beta1 exon 2 to exon 4. This results in an aberrant open reading frame, which terminates early into exon 4. No functional protein is predicted from this transcript, as the essential DNA binding and T3 binding domains not present. (J:34421)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Thrbtm1Df
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Thrb Mutation:  39 strains or lines available
References
Original:  J:34421 Forrest D, et al., Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function. EMBO J. 1996 Jun 17;15(12):3006-15
All:  64 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
07/05/2024
MGI 6.24
The Jackson Laboratory