B6Brd;B6N-Tyr^c-Brd Gbe1^{tm1a(KOMP)Wtsi}/Wtsi

Status	Available to order
EMMA ID	EM:12026
International strain name	B6Brd;B6N-Tyr^c-Brd Gbe1^{tm1a(KOMP)Wtsi}/Wtsi
Alternative name	EPD0164_6_A02
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Gbe1^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Gbe1
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 EPD0164_6_A02. 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 glycogen branching enzyme deficiency, non progressive hepatic form / Orphanet_308638
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form / Orphanet_308698
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form / Orphanet_308621
Adult polyglucosan body disease / Orphanet_206583
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form / Orphanet_308655
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form / Orphanet_308712
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form / Orphanet_308684
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form / Orphanet_308670

IMPC phenotypes (allele matching)

increased circulating creatinine level / IMPC
preweaning lethality, complete penetrance / IMPC
hyperplasia / IMPC

IMPC phenotypes (gene matching)

hyperplasia / IMPC
increased circulating creatinine level / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (gene matching)

vasculature congestion / MGI
abnormal heart morphology / MGI
abnormal liver morphology / MGI
weakness / MGI
hindlimb paralysis / MGI
abnormal skeletal muscle morphology / MGI
edema / MGI
abnormal glucose homeostasis / MGI
premature death / MGI
abnormal muscle physiology / MGI
abnormal brain morphology / MGI
thin myocardium / MGI
decreased glycogen catabolism rate / MGI
liver fibrosis / MGI
abnormal fetal cardiomyocyte proliferation / MGI
abnormal glucose tolerance / MGI
abnormal heart ventricle morphology / MGI
decreased heart rate / MGI
decreased glycogen level / MGI
increased glycogen level / MGI
decreased circulating glucose level / MGI
pulmonary vascular congestion / MGI
liver vascular congestion / MGI
decreased grip strength / MGI
increased circulating creatine kinase level / MGI
decreased liver glycogen level / MGI
decreased skeletal muscle glycogen level / MGI
increased liver glycogen level / MGI
increased skeletal muscle glycogen level / MGI
ventricular septal defect / MGI
decreased heart left ventricle size / MGI
perinatal lethality, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
spasticity / MGI
decreased fasted circulating glucose level / MGI
abnormal muscle glycogen level / MGI
increased brain glycogen 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.

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 Gbe1tm1a(KOMP)Wtsi/Wtsi