IMPC phenotypes (gene matching)
B6.129P2-Smg1Gt(RRT449)Byg/Cnbc
| Status | Available to order |
| EMMA ID | EM:07236 |
| 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 |
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