B6.129-Sdhdtm1Jlob/Cnbc
| Status | Available to order |
| EMMA ID | EM:13555 |
| Citation information | RRID:IMSR_EM:13555 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 | B6.129-Sdhdtm1Jlob/Cnbc |
| Alternative name | B6-Sdhd-KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Sdhdtm1Jlob |
| Gene/Transgene symbol | Sdhd |
Information from provider
| Provider | José López-Barneo |
| Provider affiliation | Universidad de Sevilla-IBiS |
| Genetic information | Heterozygous knockout mice for the Sdhd gene. Targeting construct consists of a neomycin cassette that replaces exons 2, 3 and 4 of the Sdhd gene (neo cassette is flanked by loxP sites) |
| Phenotypic information | Homozygous:Sdhd−/− mutants die at approximately E6-E8 stages.Heterozygous:Sdhd+/− mice develop normally and do not show signs of gross physiologic alterations. However, they showed a 40–50% decrease of mitochondrial complex II activity in the tissues tested (brain, liver, heart and kidney) and subtle morphological changes in carotid body structure. |
| Breeding history | C57BL/6J, backcrossed 10 times |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
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
- Isolated succinate-CoQ reductase deficiency / Orphanet_3208
- Carney-Stratakis syndrome / Orphanet_97286
- Hereditary pheochromocytoma-paraganglioma / Orphanet_29072
- Cowden syndrome / Orphanet_201
Literature references
- The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia.;Piruat José I, Pintado C Oscar, Ortega-Sáenz Patricia, Roche Marta, López-Barneo José, ;2004;Molecular and cellular biology;24;10933-40; 15572694