B6Brd;B6N-Tyr^c-Brd Gys2^{tm1a(KOMP)Wtsi}/Wtsi

Status	Available to order
EMMA ID	EM:12156
International strain name	B6Brd;B6N-Tyr^c-Brd Gys2^{tm1a(KOMP)Wtsi}/Wtsi
Alternative name	EPD0086_2_F11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Gys2^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Gys2
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from KOMP ES clone EPD0086_2_F11. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

Information from EMMA

Archiving centre	Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Animals used for archiving	heterozygous C57BL/6Brd-Tyr;C57BL/6N

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Glycogen storage disease due to hepatic glycogen synthase deficiency / Orphanet_2089

IMPC phenotypes (allele matching)

increased circulating calcium level / IMPC
abnormal coat/ hair morphology / IMPC
decreased body weight / IMPC
abnormal vibrissa morphology / IMPC
increased circulating chloride level / IMPC
decreased circulating glycerol level / IMPC
increased lean body mass / IMPC
decreased circulating glucose level / IMPC
increased circulating total protein level / IMPC
increased circulating sodium level / IMPC
hyperplasia / IMPC
process of degenerative change / IMPC
iron deposition / IMPC
lipid deposition / IMPC
extramedullary hemopoiesis / IMPC

IMPC phenotypes (gene matching)

process of degenerative change / IMPC
increased circulating sodium level / IMPC
hyperplasia / IMPC
decreased circulating glucose level / IMPC
increased circulating chloride level / IMPC
extramedullary hemopoiesis / IMPC
lipid deposition / IMPC
iron deposition / IMPC
abnormal vibrissa morphology / IMPC
increased circulating total protein level / IMPC
decreased circulating glycerol level / IMPC
increased circulating calcium level / IMPC
increased lean body mass / IMPC
decreased body weight / IMPC
abnormal coat/ hair morphology / IMPC

MGI phenotypes (allele matching)

liver/biliary system phenotype / MGI
decreased liver glycogen level / MGI
abnormal vibrissa morphology / MGI
decreased circulating glycerol level / MGI
decreased circulating glucose level / MGI

MGI phenotypes (gene matching)

abnormal glucose homeostasis / MGI
abnormal vibrissa morphology / MGI
decreased glycogen catabolism rate / MGI
decreased circulating insulin level / MGI
abnormal gluconeogenesis / MGI
decreased circulating glycerol level / MGI
impaired glucose tolerance / MGI
insulin resistance / MGI
liver/biliary system phenotype / MGI
homeostasis/metabolism phenotype / MGI
decreased circulating glucose level / MGI
increased liver triglyceride level / MGI
abnormal hepatocyte physiology / MGI
decreased liver glycogen level / MGI
decreased fasted circulating glucose level / MGI

Literature references

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

Information on how we integrate external resources can be found here

Availabilities

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

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

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

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

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B6Brd;B6N-Tyrc-Brd Gys2tm1a(KOMP)Wtsi/Wtsi