MGI phenotypes (allele matching)
B6.129P2-Tbk1tm1Yeh/Cnbc
| Status | Available to order |
| EMMA ID | EM:07230 |
| 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 |
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