- decreased bone mineral density / MGI
- abnormal trabecular bone morphology / MGI
- obese / MGI
- decreased body weight / MGI
- postnatal growth retardation / MGI
- increased heart rate / MGI
- abnormal thyroid physiology / MGI
- increased activity of thyroid / MGI
- decreased activity of thyroid / MGI
- abnormal compact bone morphology / MGI
- abnormal thyroid-stimulating hormone level / MGI
- decreased circulating insulin-like growth factor I level / MGI
- decreased circulating thyroxine level / MGI
- decreased circulating triiodothyronine level / MGI
- increased body temperature / MGI
- increased total body fat amount / MGI
- decreased compact bone area / MGI
- abnormal pup retrieval / MGI
- abnormal osteoclast physiology / MGI
- reduced female fertility / MGI
- abnormal thyroid follicle morphology / MGI
- prolonged estrous cycle / MGI
- decreased bone mineral content / MGI
- perinatal lethality, incomplete penetrance / MGI
- decreased areal bone mineral density / MGI
- hearing/vestibular/ear phenotype / MGI
C;129P2-Thratm2Ven/Kctt
Status | Available to order |
EMMA ID | EM:04560 |
International strain name | C;129P2-Thratm2Ven/Kctt |
Alternative name | Thra-tm2Ven |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Thratm2Ven, |
Gene/Transgene symbol | Thra |
Information from provider
Provider | Björn Vennström |
Provider affiliation | Department of Cell and Molecular Biology, Karolinska Institutet, CMB |
Genetic information | The RNAs for the thyroid hormone receptor alpha (Thra) TRa1 and TRa2 isoforms appear to be produced by a use of alternative transcriptional stops and subsequent splicing. Expression of the TRa2 isoform of the thyroid hormone receptor was completely abolished by abrogating transcription into exon 10, i.e. the exon that encodes the TRa2-specific coding sequence. As a result, all RNAs transcribed from the Thra locus by default encode the TRa1 isoform, and at elevated levels. Both RNA and protein levels for TRa1 are increased approx. 6-fold in the homozygote, 3-fold in the heterozygote. The artificial transcriptional stop is provided by the inserted neomycin-resistance cassette. |
Phenotypic information | Analysis of the phenotype revealed a mixed hypo- and hyperthyroid phenotype in both the homo- and heterozygotes. These features include moderately reduced levels of serum thyroid hormones, an increased heart rate, elevated body temperature and delayed ossification. These characteristics were ascribed to the elevated expression of TRa1, whereas no phenotype could be associated with the lack of TRa2 expression (Salto et al., 2001). The elevated expression of TRa1 can substitute for Thr-beta in Thrb-/- mice (Ng et al., 2001). |
Breeding history | The founders were backcrossed for approx 4 generations against BALB/c. The strain has been maintained as a heterozygote. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | not known |
Information from EMMA
Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha / Orphanet_566231
MGI phenotypes (allele matching)
Literature references
- Ablation of TRalpha2 and a concomitant overexpression of alpha1 yields a mixed hypo- and hyperthyroid phenotype in mice.;Saltó C, Kindblom J M, Johansson C, Wang Z, Gullberg H, Nordström K, Mansén A, Ohlsson C, Thorén P, Forrest D, Vennström B, ;2001;Molecular endocrinology (Baltimore, Md.);15;2115-28; 11731613
- A thyroid hormone receptor that is required for the development of green cone photoreceptors.;Ng L, Hurley J B, Dierks B, Srinivas M, Saltó C, Vennström B, Reh T A, Forrest D, ;2001;Nature genetics;27;94-8; 11138006
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