B6.129S1-Thrb^tm1Df/J

Stock number: 003462
Product name: Thrb-
Research areas: Endocrine Deficiency Research, Internal/Organ Research, Mouse/Human Gene Homologs, Neurobiology Research, Research Tools, Sensorineural Research

Description

These Thrb knock-out mice exhibit goiter and elevated levels of both thyroid hormone and thyroid stimulating hormone.

Detailed description

Mice homozygous for the Thrb^tm1Df targeted mutation are viable and fertile displaying normal growth rates. Homozygous mutant mice exhibit goiter and elevated levels of both thyroid hormone and thyroid stimulating hormone. Defects in liver responses to thyroid hormone and subtle behavioral abnormalities are observed. The mice fail to develop normal hearing, as assessed by impaired auditory-evoked brainstem responses, and are susceptible to audiogenic seizures. This strain provides a recessive model for the human syndrome of generalized thyroid hormone resistance (GTHR).

Allele

Symbol: Thrb^tm1Df
Name: targeted mutation 1, Douglas Forrest
MGI accession ID: MGI:1860434
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: Thrb-; TRbeta-
Marker symbol: Thrb
Marker name: thyroid hormone receptor beta
Marker synonyms: C-ERBA-2; c-erbAbeta; C-erba-beta; ERBA2; GRTH; Nr1a2; PRTH; RATT3REC; T3R[b]; T3Rbeta; T3rec; THR1; THRB1; THRB2; THRbeta; THRbeta1; Thrbeta2; TR beta; TRb; TRbeta; TRbeta1
Chromosome: 14
Strain of origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺
Molecular note: 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.