IMPC phenotypes (gene matching)
B6.Cg-Tbcetm2c(EUCOMM)Hmgu/Ieg
| Status | Available to order |
| EMMA ID | EM:13235 |
| International strain name | B6.Cg-Tbcetm2c(EUCOMM)Hmgu/Ieg |
| Alternative name | TBCEtm2c (TBCEfl/fl) |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Tbcetm2c(EUCOMM)Hmgu |
| Gene/Transgene symbol | Tbce |
Information from provider
| Provider | Philip Wenzel |
| Provider affiliation | Cardiology 1, Center for Thrombosis and Hemostasis Mainz |
| Additional owner | TBCEtm2c founder mouse:
C57BL/6N-Tbce |
| Genetic information | Conditional knock-out of tubulin-folding cofactor E (Tbce) was achieved by using the “flip knockout first approach” (EUCOMM strategy): C57BL/6N-Tbcetm2a(EUCOMM)Hmgu/Ieg mice (EMMA strain EM:08306; https://www.infrafrontier.eu/search?keyword=Tbce) were crossed to flp recombinase-deleter mice. A subset of offspring carrying the tm2c allele (Tbce fl/wt) was outcrossed to wild-type C57BL/6N mice and floxed heterozygotes, negative for flp-deleter, were then chosen for brother × sister matings and subsequent line maintenance (Tbce fl/fl). |
| Phenotypic information | Homozygous:Tissue-specific Tbce knock-out in cre recombinase-expressing tissue can be achieved by crossing Tbce tm2c (Tbce fl/fl) to a cre recombinase-expressing mouse.Heterozygous:Tissue-specific Tbce knock-out in cre recombinase-expressing tissue can be achieved by crossing Tbce tm2c (Tbce fl/fl) to a cre recombinase-expressing mouse. |
| Breeding history | 8 generations of sibmatings have been performed on C57BL/6 background. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | homozygous C57BL/6N |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Sanjad-Sakati syndrome / Orphanet_2323
- Autosomal recessive Kenny-Caffey syndrome / Orphanet_93324
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome / Orphanet_496756
Literature references
- Tubulin-folding cofactor E deficiency promotes vascular dysfunction by increased endoplasmic reticulum stress.;Efentakis Panagiotis, Molitor Michael, Kossmann Sabine, Bochenek Magdalena L, Wild Johannes, Lagrange Jeremy, Finger Stefanie, Jung Rebecca, Karbach Susanne, Schäfer Katrin, Schulz Andreas, Wild Philipp, Münzel Thomas, Wenzel Philip, ;2022;European heart journal;43;488-500; 34132336