MGI phenotypes (gene matching)
- no abnormal phenotype detected / MGI
B6.129P2-Diablotm1Mak/Cnbc
| Status | Available to order |
| EMMA ID | EM:07235 |
| International strain name | B6.129P2-Diablotm1Mak/Cnbc |
| Alternative name | SMAC (Diablo |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Diablotm1Mak |
| Gene/Transgene symbol | Diablo |
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 | Exons 2 to 4 were replaced with PGK-neo and diphtheria toxin A (DT-A) was added for negative selection. |
| Phenotypic information | Diablo (Smac) -/- mice were viable, grew, and matured normally and did not show any histological abnormalities. Although the cleavage in vitro of procaspase-3 was inhibited in lysates of Smac -/- cells, all types of cultured Smac -/- cells tested responded normally to all apoptotic stimuli applied. There were also no detectable differences in Fas-mediated apoptosis in the liver in vivo. Our data strongly suggest the existence of a redundant molecule or molecules capable of compensating for a loss of Smac function. |
| Breeding history | Backcrossed 10 times to C57BL/6. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| 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
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
Literature references
- Requirement for Casper (c-FLIP) in regulation of death receptor-induced apoptosis and embryonic development.;Yeh W C, Itie A, Elia A J, Ng M, Shu H B, Wakeham A, Mirtsos C, Suzuki N, Bonnard M, Goeddel D V, Mak T W, ;2000;Immunity;12;633-42; 10894163
- Generation and characterization of Smac/DIABLO-deficient mice.;Okada Hitoshi, Suh Woong-Kyung, Jin Jianping, Woo Minna, Du Chunying, Elia Andrew, Duncan Gordon S, Wakeham Andrew, Itie Annick, Lowe Scott W, Wang Xiaodong, Mak Tak W, ;2002;Molecular and cellular biology;22;3509-17; 11971981