Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Thrbtm6.1Few
Name:	thyroid hormone receptor beta; targeted mutation 6.1, Fredric E Wondisford
MGI ID:	MGI:3849878
Synonyms:	ThrbR429Q
Gene:	Thrb  Location: Chr14:4431611-4809435 bp, - strand  Genetic Position: Chr14, 7.08 cM, cytoband A3
Alliance:	Thrbtm6.1Few page

Germline Transmission:	Earliest citation of germline transmission: J:150008
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Humanized sequence) Mutation:    Single point mutation   Mutation details: Arginine codon 429 (CGG) in exon 10 was replaced with glutamine (CAG) (p.R429Q). This mutation disrupts the corepressor binding domain as well as homodimerization and has been identified in patients with central resistance to thyroid hormone. A self-excising ACN cassette (loxP site + testis-specific ACE promoter driven cre gene + neomycin resistance gene cassette + loxP site) was inserted into intron 9. (J:150008)

Generation of the Thrbtm6.1Few allele

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

Original:	J:150008 Machado DS, et al., A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9441-6
All:	1 reference(s)