Phenotypes Associated with This Genotype

Genotype
MGI:4829588

• Allelic Composition: Jak2^tm1.1Jlvl/Jak2^tm1.1Jlvl
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

premature death ( J:163497 )

• 5 of 11 mice die unexpectedly around 15 weeks

hematopoietic system

extramedullary hematopoiesis ( J:163497 )

• in the liver

abnormal bone marrow cell morphology/development ( J:163497 )

• the number of nucleated cells in the femur is decreased with an increase in neutrophil precursors (1.5)-fold and a reduction in erythroblasts (2-fold) and lymphocytes (3-fold)

abnormal common myeloid progenitor cell morphology ( J:163497 )

• circulating granulocyte precursors (myeloblasts and metamyelocytes) are observed unlike in wild-type mice

• myeloid precursors are increased 82-fold in the spleen compared to in wild-type mice

• CFU-GM (colony forming unit-granulocyte-macrophage) progenitor cells are increased 4-fold

increased megakaryocyte cell number ( J:163497 )

• mice exhibit megakaryocytic hyperplasia compared with wild-type mice

increased erythroid progenitor cell number ( J:163497 )

• erythroblasts are observed unlike in wild-type mice

• erythroid precursors are increased 88-fold in the spleen compared to in wild-type mice

• CFU-E (cumulative colony forming unit) progenitor cells are increased 87-fold

• BFU-E (colony forming unit-erythroid) progenitor cells are increased 6-fold

abnormal erythrocyte morphology ( J:163497 )

increased erythrocyte cell number ( J:163497 )

• doubled

increased hematocrit ( J:163497 )

decreased mean corpuscular volume ( J:163497 )

anisocytosis ( J:163497 )

microcytosis ( J:163497 )

poikilocytosis ( J:163497 )

polychromatophilia ( J:163497 )

thrombocytosis ( J:163497 )

• 4.7-fold increase in platelet count

increased mean platelet volume ( J:163497 )

• 3-fold increase in mean platelet volume

giant platelets ( J:163497 )

• presence of giant platelets

increased leukocyte cell number ( J:163497 )

• 7.3-fold

increased granulocyte number ( J:163497 )

• 12.5-fold

increased lymphocyte cell number ( J:163497 )

• 3.3-fold

increased monocyte cell number ( J:163497 )

• 3.5-fold

abnormal spleen morphology ( J:163497 )

• mice develop spleen fibrosis with low collagen deposition unlike wild-type mice

enlarged spleen ( J:163497 )

• over time due to an accumulation of erythroid (88-fold) and myeloid (82-fold) precursor without a blockage of maturation

increased spleen red pulp amount ( J:163497 )

decreased spleen white pulp amount ( J:163497 )

homeostasis/metabolism

decreased circulating iron level ( J:163497 )

immune system

increased leukocyte cell number ( J:163497 )

• 7.3-fold

increased granulocyte number ( J:163497 )

• 12.5-fold

increased lymphocyte cell number ( J:163497 )

• 3.3-fold

increased monocyte cell number ( J:163497 )

• 3.5-fold

abnormal spleen morphology ( J:163497 )

• mice develop spleen fibrosis with low collagen deposition unlike wild-type mice

enlarged spleen ( J:163497 )

• over time due to an accumulation of erythroid (88-fold) and myeloid (82-fold) precursor without a blockage of maturation

increased spleen red pulp amount ( J:163497 )

decreased spleen white pulp amount ( J:163497 )

growth/size/body

enlarged spleen ( J:163497 )

• over time due to an accumulation of erythroid (88-fold) and myeloid (82-fold) precursor without a blockage of maturation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	essential thrombocythemia	DOID:2224	OMIM:187950 OMIM:601977 OMIM:614521	J:163497
myelofibrosis		DOID:4971	OMIM:254450	J:163497
polycythemia vera		DOID:8997	OMIM:263300	J:163497