Thrb^tm6.1Few
Targeted Allele Detail

Summary

• Symbol: Thrb^tm6.1Few
• Name: thyroid hormone receptor beta; targeted mutation 6.1, Fredric E Wondisford
• MGI ID: MGI:3849878
• Synonyms: Thrb^R429Q
• Gene: Thrb Location: Chr14:4431611-4809435 bp, - strand Genetic Position: Chr14, 7.08 cM, cytoband A3
• Alliance: Thrb^tm6.1Few page

Mutation origin

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

Mutation description

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 Thrb^tm6.1Few allele

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 41 strains or lines available

References

• 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)