MGI phenotypes (allele matching)
B6.129P2-Tbk1tm1Yeh/Cnbc
| Status | Available to order |
| EMMA ID | EM:07230 |
| Citation information | RRID:IMSR_EM:07230 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 | B6.129P2-Tbk1tm1Yeh/Cnbc |
| Alternative name | T2K |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Tbk1tm1Yeh |
| Gene/Transgene symbol | Tbk1 |
Information from provider
| Provider | Tak W Mak |
| Provider affiliation | Division of Stem Cell and Developmental Biology, Advanced Medical Discovery Institute/Ontario Cancer Institute |
| Genetic information | Targeting construct deletes exons 1 and 2 of T2K (Tbk1) with neomycin cassette in the opposite direction of transcription. |
| Phenotypic information | The physiological function of T2K (Tbk1) was investigated using T2K-deficient mice. Heterozygotes appear normal, but T2K -/- animals die at approximately E14.5 of massive liver degeneration and apoptosis. Nevertheless, hematopoietic progenitors from T2K-deficient fetal liver support normal lymphocyte development. Furthermore, T2K -/- embryonic fibroblasts and thymocytes do not display increased sensitivity to TNFalpha-induced apoptosis. |
| Breeding history | C57BL/6, 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
- Frontotemporal dementia with motor neuron disease / Orphanet_275872
MGI phenotypes (gene matching)
- increased monocyte cell number / MGI
- sparse hair / MGI
- lymphoid hyperplasia / MGI
- skin hyperplasia / MGI
- hyperkeratosis / MGI
- disheveled coat / MGI
- skin edema / MGI
- abnormal inflammatory response / MGI
- abnormal skin morphology / MGI
- abnormal macrophage physiology / MGI
- increased IgA level / MGI
- decreased basophil cell number / MGI
- abnormal cytokine secretion / MGI
- no phenotypic analysis / MGI
- liver degeneration / MGI
- pallor / MGI
- liver hemorrhage / MGI
- skin inflammation / MGI
- increased spleen weight / MGI
- dermal hyperplasia / MGI
- decreased eosinophil cell number / MGI
- increased NK T cell number / MGI
- decreased NK T cell number / MGI
- increased circulating tumor necrosis factor level / MGI
- abnormal interferon secretion / MGI
- increased tumor necrosis factor secretion / MGI
- decreased interferon-beta secretion / MGI
- increased circulating interleukin-10 level / MGI
- increased circulating interleukin-6 level / MGI
- increased circulating interleukin-1 beta level / MGI
- increased interleukin-6 secretion / MGI
- abnormal cytokine level / MGI
- increased susceptibility to endotoxin shock / MGI
- abnormal hair cycle anagen phase / MGI
- increased susceptibility to bacterial infection induced morbidity/mortality / MGI
- postnatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
Literature references
- Deficiency of T2K leads to apoptotic liver degeneration and impaired NF-kappaB-dependent gene transcription.;Bonnard M, Mirtsos C, Suzuki S, Graham K, Huang J, Ng M, Itié A, Wakeham A, Shahinian A, Henzel W J, Elia A J, Shillinglaw W, Mak T W, Cao Z, Yeh W C, ;2000;The EMBO journal;19;4976-85; 10990461