B6.129P2-Smg1^{Gt(RRT449)Byg}/Cnbc

Status	Available to order
EMMA ID	EM:07236
International strain name	B6.129P2-Smg1^{Gt(RRT449)Byg}/Cnbc
Alternative name	Smg1
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Smg1^{Gt(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	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
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

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

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6.129P2-Smg1Gt(RRT449)Byg/Cnbc