C3El.Cg-Pklr^M1Neu/Ieg

Status	Available to order
EMMA ID	EM:01946
Citation information	RRID:IMSR_EM:01946 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C3El.Cg-Pklr^M1Neu/Ieg
Alternative name	PK10681
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Pklr^M1Neu
Gene/Transgene symbol	Pklr

Information from provider

Provider	Walter Pretsch
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	The mutation results in pyruvate kinase (Pk-1; pyruvate kinase liver and red blood cell, Pklr gene) hyperactivity. It is suggested that the regulatory locus of Pk-1 is affected by this mutation.
Phenotypic information	The PK activity alteration was detected in blood and could also be found in the liver but not in muscle, kidney, heart, spleen, lung, or brain. Heterozygous mice have erythrocyte PK activity enhanced up to about 160% and homozygotes up to about 240%, compared to homozygous wild-type mice. The heterozygous and homozygous mutants are viable and fully fertile and do not show symptoms of erythrocytosis. The mutation does not affect the heat stability, the electrophoretic mobility, or the Km (for phosphoenolpyruvate) of the PK protein.
Breeding history	C3H/El (7th generation)
References	Linear dose-response relationship of erythrocyte enzyme-activity mutations in offspring of ethylnitrosourea-treated mice.;Charles D J, Pretsch W, ;1987;Mutation research;176;81-91; 3796661 The liver/erythrocyte pyruvate kinase gene complex [Pk-1] in the mouse: regulatory gene mutations.;Fitton L A, Davidson M, Moore K J, Charles D J, Pretsch W, Elston R C, Bulfield G, ;1991;Genetical research;58;233-41; 1802805

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Hemolytic anemia due to red cell pyruvate kinase deficiency / Orphanet_766

MGI phenotypes (gene matching)

decreased hematocrit / MGI
abnormal erythropoiesis / MGI
enlarged spleen / MGI
anemia / MGI
hemolytic anemia / MGI
no abnormal phenotype detected / MGI
abnormal erythrocyte morphology / MGI
increased mean corpuscular volume / MGI
reticulocytosis / MGI
decreased hemoglobin content / MGI
decreased erythrocyte cell number / MGI
increased erythroid progenitor cell number / MGI
abnormal erythrocyte osmotic lysis / MGI
decreased susceptibility to parasitic infection / MGI
increased circulating bilirubin level / MGI
abnormal enzyme/coenzyme activity / MGI
hemosiderosis / MGI
abnormal common myeloid progenitor cell morphology / MGI
increased nucleated erythrocyte cell number / MGI
increased susceptibility to bacterial infection induced morbidity/mortality / MGI
increased erythrocyte clearance / MGI
decreased susceptibility to parasitic infection induced morbidity/mortality / MGI
increased erythroblast number / MGI

Literature references

Linear dose-response relationship of erythrocyte enzyme-activity mutations in offspring of ethylnitrosourea-treated mice.;Charles D J, Pretsch W, ;1987;Mutation research;176;81-91; 3796661
The liver/erythrocyte pyruvate kinase gene complex [Pk-1] in the mouse: regulatory gene mutations.;Fitton L A, Davidson M, Moore K J, Charles D J, Pretsch W, Elston R C, Bulfield G, ;1991;Genetical research;58;233-41; 1802805

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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^*

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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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C3El.Cg-PklrM1Neu/Ieg