IMPC phenotypes (gene matching)
B6.129P2-Smg1Gt(RRT449)Byg/Cnbc
| Status | Available to order |
| EMMA ID | EM:07236 |
| Citation information | RRID:IMSR_EM:07236 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-Smg1Gt(RRT449)Byg/Cnbc |
| Alternative name | Smg1 |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Smg1Gt(RRT449)Byg |
| Gene/Transgene symbol | Smg1 |
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 | The Smg1 gene-trap (Smg1gt) allele was expected to be hypomorphic as a result of fusion of exon 12 to the splice acceptor site upstream of the beta-galactosidase/neomycin (beta-Geo) ORF. The gene-trap construct also harbors a stop codon and a premature polyadenylation signal that should abrogate expression of Smg1 exons 13 to 63. Only a relatively small N-terminal protein fragment representing aa 1 to 583 of the 3,658-aa native Smg1 protein should be produced, and this peptide should lack critical domains of Smg1, including its catalytic domain. |
| Phenotypic information | By using a gene-trap model of Smg1 deficiency, we show that this kinase is essential for mouse embryogenesis, such that Smg1 loss is lethal at embryonic day 8.5. High-throughput RNA sequencing (RNA-Seq) from cells of Smg1-deficient embryos revealed that Smg1 depletion led to pronounced accumulation of premature termination codons (PTC)-containing splice variant transcripts from approximately 9% of genes predicted to contain alternative splicing events capable of eliciting nonsense-mediated mRNA decay (NMD). |
| Breeding history | Backcrossed 10 times to C57BL/6. |
| 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
MGI phenotypes (allele matching)
- abnormal heart development / MGI
- decreased cell proliferation / MGI
- abnormal eye development / MGI
- internal hemorrhage / MGI
- decreased embryo size / MGI
- embryonic growth arrest / MGI
- delayed brain development / MGI
- abnormal cardiovascular development / MGI
- delayed embryo turning / MGI
- failure of heart looping / MGI
- abnormal cell physiology / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- increased embryonic tissue cell apoptosis / MGI
- absent optic pit / MGI
MGI phenotypes (gene matching)
- abnormal tooth development / MGI
- abnormal heart development / MGI
- decreased cell proliferation / MGI
- enlarged liver / MGI
- enlarged spleen / MGI
- increased body length / MGI
- increased body weight / MGI
- increased body size / MGI
- abnormal eye development / MGI
- internal hemorrhage / MGI
- decreased embryo size / MGI
- embryonic growth arrest / MGI
- delayed brain development / MGI
- increased tumor incidence / MGI
- increased B cell derived lymphoma incidence / MGI
- increased lung adenocarcinoma incidence / MGI
- premature death / MGI
- abnormal tooth morphology / MGI
- abnormal kidney morphology / MGI
- chronic inflammation / MGI
- hepatic steatosis / MGI
- abnormal cardiovascular development / MGI
- delayed embryo turning / MGI
- failure of heart looping / MGI
- homeostasis/metabolism phenotype / MGI
- cellular phenotype / MGI
- skeleton phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal cell physiology / MGI
- increased circulating interleukin-6 level / MGI
- decreased circulating interleukin-1 beta level / MGI
- abnormal basicranium angle / MGI
- prognathia / MGI
- embryonic lethality between implantation and placentation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- increased lymphoma incidence / MGI
- increased embryonic tissue cell apoptosis / MGI
- absent optic pit / MGI
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
- Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay.;McIlwain David R, Pan Qun, Reilly Patrick T, Elia Andrew J, McCracken Susan, Wakeham Andrew C, Itie-Youten Annick, Blencowe Benjamin J, Mak Tak W, ;2010;Proceedings of the National Academy of Sciences of the United States of America;107;12186-91; 20566848