Thrb^tm2Few
Targeted Allele Detail

Summary

• Symbol: Thrb^tm2Few
• Name: thyroid hormone receptor beta; targeted mutation 2, Frederic E Wondisford
• MGI ID: MGI:2183367
• Synonyms: TRbeta^delta337T
• Gene: Thrb Location: Chr14:4431611-4809435 bp, - strand Genetic Position: Chr14, 7.08 cM, cytoband A3
• Alliance: Thrb^tm2Few 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 details: The 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)

Disease models

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: 41 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)