C57BL/6J-Tshrem1Cnbc/Cnbc
| Status | Available to order |
| EMMA ID | EM:14762 |
| Citation information | RRID:IMSR_EM:14762 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6J-Tshrem1Cnbc/Cnbc |
| Alternative name | Tshr Met453Thr |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Tshrem1Cnbc |
| Gene/Transgene symbol | Tshr |
Information from provider
| Provider | Lluis Montoliu |
| Provider affiliation | CNB Mouse Embryo Cryopreservation Facility, National Centre for Biotechnology (CNB-CSIC) |
| Genetic information | Mutant mice generated with genome editing tools CRISPR/Cas9 to introduce the mutation Met453Thr in the Tshr gene. This mutation corresponds to protein (p.Met453Thr) and to DNA (c.1358T>C). |
| Phenotypic information | Homozygous:Likely to display hyperthyroidism.Heterozygous:None apparent. |
| Breeding history | Mutant mice were obtained upon electroporating C57BL/6J fertilized oocytes with CRISPR/Cas9 reagents and the resulting mice have been bred with C57BL/6J partners since then. |
| References |
|
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Athyreosis / Orphanet_95713
- Thyroid hypoplasia / Orphanet_95720
- Hypothyroidism due to TSH receptor mutations / Orphanet_90673
- Familial gestational hyperthyroidism / Orphanet_99819
- Familial hyperthyroidism due to mutations in TSH receptor / Orphanet_424
Literature references
- Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.;Makkonen Kristiina, Jännäri Meeri, Crisóstomo Luís, Kuusi Matilda, Patyra Konrad, Melnyk Vladyslav, Linnossuo Veli, Ojala Johanna, Ravi Rowmika, Löf Christoffer, Mäkelä Juho-Antti, Miettinen Päivi, Laakso Saila, Ojaniemi Marja, Jääskeläinen Jarmo, Laakso Markku, Bossowski Filip, Sawicka Beata, Stożek Karolina, Bossowski Artur, Kleinau Gunnar, Scheerer Patrick, FinnGen FinnGen, Reeve Mary Pat, Kero Jukka, ;2024;JCI insight;9;; 38194289