B6Brd;B6N-Tyr^c-Brd Ldha^{tm1a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:05082
International strain name	B6Brd;B6N-Tyr^c-Brd Ldha^{tm1a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0070_2_G04
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Ldha^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Ldha
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 EUCOMM ES clone EPD0070_2_G04. 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	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency / Orphanet_284426

IMPC phenotypes (allele matching)

decreased body weight / IMPC
decreased total body fat amount / IMPC
preweaning lethality, complete penetrance / IMPC
hyperplasia / IMPC
extramedullary hemopoiesis / IMPC

IMPC phenotypes (gene matching)

decreased body weight / IMPC
hyperplasia / IMPC
extramedullary hemopoiesis / IMPC
decreased total body fat amount / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (allele matching)

decreased circulating HDL cholesterol level / MGI
decreased circulating alanine transaminase level / MGI
decreased circulating alkaline phosphatase level / MGI
decreased lactate dehydrogenase level / MGI

MGI phenotypes (gene matching)

decreased circulating HDL cholesterol level / MGI
decreased hematocrit / MGI
increased neutrophil cell number / MGI
spleen hyperplasia / MGI
decreased body size / MGI
hemolytic anemia / MGI
no abnormal phenotype detected / MGI
abnormal erythrocyte morphology / MGI
increased mean corpuscular volume / MGI
reticulocytosis / MGI
increased heart weight / MGI
decreased hemoglobin content / MGI
decreased erythrocyte cell number / MGI
decreased circulating alanine transaminase level / MGI
decreased circulating alkaline phosphatase level / MGI
increased liver weight / MGI
increased spleen weight / MGI
increased circulating bilirubin level / MGI
hematopoietic system phenotype / MGI
decreased lactate dehydrogenase level / MGI
abnormal enzyme/coenzyme activity / MGI
increased lung weight / MGI
abnormal common myeloid progenitor cell morphology / MGI
abnormal leukocyte morphology / MGI
postnatal lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
preweaning lethality, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
preweaning lethality, incomplete penetrance / 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
A glycolytic shift in Schwann cells supports injured axons.;Babetto Elisabetta, Wong Keit Men, Beirowski Bogdan, ;2020;Nature neuroscience;23;1215-1228; 32807950

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 embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. 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

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

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B6Brd;B6N-Tyrc-Brd Ldhatm1a(EUCOMM)Wtsi/WtsiCnbc