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Thratm1Ffla
Targeted Allele Detail
Summary
Symbol: Thratm1Ffla
Name: thyroid hormone receptor alpha; targeted mutation 1, Frederic Flamant
MGI ID: MGI:3758914
Synonyms: TRalpha1L400R, TRalphaAMI
Gene: Thra  Location: Chr11:98631539-98659832 bp, + strand  Genetic Position: Chr11, 62.58 cM, cytoband D-E
Alliance: Thratm1Ffla page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:125353
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Conditional ready, Dominant negative)
Mutation:    Nucleotide substitutions
 
Mutation detailsThe open reading frame was replaced with a construct containing a 5' floxed neo cassette, a cDNA encoding the Thra open reading frame with a nucleotide substitution that results in an amino acid substitution of arginine for leucine at position 400 (L400R), and a 3' IRES-Tau-lacZ cassette. The L400R mutation is thought to place the receptor in an unliganded state and create a dominant negative receptor. Expression of the mutant receptor and lacZ is only achieved by cre-mediated removal of the floxed neo cassette. Western blot analysis was used to confirm expression of the mutant receptor following cre-mediated recombination. (J:125353)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
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 Thra Mutation:  40 strains or lines available
References
Original:  J:125353 Quignodon L, et al., A Point Mutation in the Activation Function 2 Domain of Thyroid Hormone Receptor {alpha}1 Expressed after CRE-Mediated Recombination Partially Recapitulates Hypothyroidism. Mol Endocrinol. 2007 Oct;21(10):2350-2360
All:  19 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
10/29/2024
MGI 6.24
The Jackson Laboratory