Thrb^tm1Df
Targeted Allele Detail

Summary

• Symbol: Thrb^tm1Df
• 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: Thrb^tm1Df 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 details: Insertion 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

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Thrb^tm1Df

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: 41 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: 65 reference(s)