Phenotypes associated with this allele

• Allele Symbol: Pklr^slc
• Allele Name: pyruvate kinase deficiency
• Allele ID: MGI:1856522
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pklr^slc/Pklr^slc	CBA/NSlc-Pklr^slc	MGI:5433725
hm2	Pklr^slc/Pklr^slc	involves: CBA/NSlc	MGI:5529924
cx3	Ampd3^tm1Tm/Ampd3^tm1Tm Pklr^slc/Pklr^slc	involves: CBA/NSlc	MGI:5529923

Genotype
MGI:5433725

hm1

• Allelic Composition: Pklr^slc/Pklr^slc
• Genetic Background: CBA/NSlc-Pklr^slc

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

increased susceptibility to bacterial infection induced morbidity/mortality ( J:128518 )

• in Salmonella typhimurium-infected mice

decreased susceptibility to parasitic infection induced morbidity/mortality ( J:141722 )

• in mice infected with malaria parasite P. chabaudi

hematopoietic system

enlarged spleen ( J:30035 )

• 4.6 times in male mice

• 6.4 times in female mice

abnormal common myeloid progenitor cell morphology ( J:30035 )

• increased CFU-S cells in the spleen

abnormal erythropoiesis ( J:30035 , J:141722 )

• in the red pulp (J:30035)

• increased (J:141722)

anemia ( J:141722 )

• more severe than in Pklr^char4 homozygotes

hemolytic anemia ( J:29199 , J:30035 )

• chronic (J:29199)

• severe nonspherocytic anemia (J:30035)

• however, anemia is rescued by bone marrow transplant with wild-type bone marrow (J:30035)

increased erythroid progenitor cell number ( J:29199 )

• 2.3 times in the bone marrow

• 66 times in the spleen

increased erythroblast number ( J:30035 )

decreased erythrocyte cell number ( J:30035 )

decreased hematocrit ( J:30035 )

decreased hemoglobin content ( J:30035 , J:141722 )

increased mean corpuscular volume ( J:30035 )

increased nucleated erythrocyte cell number ( J:30035 )

reticulocytosis ( J:30035 , J:141722 )

increased erythrocyte clearance ( J:141722 )

homeostasis/metabolism

increased circulating bilirubin level ( J:30035 )

hemosiderosis ( J:30035 )

• in the red pulp

abnormal enzyme/coenzyme activity ( J:29199 )

• mice exhibit an almost complete loss of pyruvate kinase activity

immune system

enlarged spleen ( J:30035 )

• 4.6 times in male mice

• 6.4 times in female mice

increased susceptibility to bacterial infection induced morbidity/mortality ( J:128518 )

• in Salmonella typhimurium-infected mice

decreased susceptibility to parasitic infection ( J:141722 )

• mice infected with the malaria parasite Plasmodium chabaudi AS exhibit lower parasitemia and no mortality unlike control mice

decreased susceptibility to parasitic infection induced morbidity/mortality ( J:141722 )

• in mice infected with malaria parasite P. chabaudi

growth/size/body

enlarged spleen ( J:30035 )

• 4.6 times in male mice

• 6.4 times in female mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pyruvate kinase deficiency of red cells		DOID:0111077	OMIM:266200	J:29199

Genotype
MGI:5529924

hm2

• Allelic Composition: Pklr^slc/Pklr^slc
• Genetic Background: involves: CBA/NSlc

hematopoietic system

anemia ( J:203909 )

abnormal erythrocyte morphology ( J:203909 )

increased erythrocyte osmotic fragility ( J:203909 )

• RBC are more fragile under low osmotic conditions

Genotype
MGI:5529923

cx3

• Allelic Composition: Ampd3^tm1Tm/Ampd3^tm1Tm; Pklr^slc/Pklr^slc
• Genetic Background: involves: CBA/NSlc

growth/size/body

enlarged spleen ( J:203909 )

hematopoietic system

enlarged spleen ( J:203909 )

anemia ( J:203909 )

abnormal erythrocyte morphology ( J:203909 )

reticulocytosis ( J:203909 )

abnormal erythrocyte physiology ( J:203909 )

• ATP, ADP, and AMP levels increase in RBC

increased erythrocyte osmotic fragility ( J:203909 )

• RBC are more fragile under low osmotic conditions

immune system

enlarged spleen ( J:203909 )