Phenotypes associated with this allele

• Allele Symbol: Jak2^tm1.2Ble
• Allele Name: targeted mutation 1.2, Benjamin L Ebert
• Allele ID: MGI:4818801
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Jak2^tm1.2Ble/Jak2^tm1.2Ble	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:4818802
ht2	Jak2^tm1.2Ble/Jak2^+	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:4818803
cn3	Jak2^tm1.2Ble/Jak2^+ Picalm^tm1.1Tmae/Picalm^+ Commd10^Tg(Vav1-icre)A2Kio/Commd10^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * CBA * SJL	MGI:5640746
cn4	Jak2^tm1.2Ble/Jak2^+ Picalm^tm1.1Tmae/Picalm^tm1.1Tmae Commd10^Tg(Vav1-icre)A2Kio/Commd10^+	involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * CBA * SJL	MGI:5640744

Genotype
MGI:4818802

hm1

• Allelic Composition: Jak2^tm1.2Ble/Jak2^tm1.2Ble
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

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

mortality/aging

prenatal lethality, complete penetrance ( J:160883 )

• unable to obtain any viable homozygotes, with the stage of prenatal lethality not specified

Genotype
MGI:4818803

ht2

• Allelic Composition: Jak2^tm1.2Ble/Jak2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

mortality/aging

premature death ( J:160883 )

• median survival is 146 days

neoplasm

increased hemolymphoid system tumor incidence ( J:160883 )

• all develop a myeloproliferative neoplasm

• these myeloproliferative neoplasms can be transplanted by transfer of either unfractionated bone marrow cells or LSK cells but not by transfer of MEP or granulocyte/macrophage progenitor cells

• however, acute leukemia is not detected

hematopoietic system

hematopoietic system phenotype ( J:160883 )

N • despite the increase in megakaryocyte numbers no increases in platelet counts are detected

abnormal definitive hematopoiesis ( J:160883 )

• expansion of the megakaryocytic/erythroid progenitor (MEP) population

• disproportional increase in the number of erythroid progenitors relative to other myeloid progenitor

abnormal erythropoiesis ( J:160883 )

• increase in the number of erythroid precursors in the bone marrow and spleen

• marked erythroid hyperplasia in the splenic red pulp

extramedullary hematopoiesis ( J:160883 )

• prominent splenic extramedullary hematopoiesis

abnormal megakaryocyte morphology ( J:160883 )

• megakaryocytes with atypical nuclear features are present in the bone marrow

increased megakaryocyte cell number ( J:160883 )

• mild hyperplasia in the splenic red pulp

increased erythroid progenitor cell number ( J:160883 )

increased hematocrit ( J:160883 )

increased leukocyte cell number ( J:160883 )

abnormal spleen morphology ( J:160883 )

• overall effacement of the normal architecture

enlarged spleen ( J:160883 )

abnormal spleen red pulp morphology ( J:160883 )

• marked erythroid and mild megakaryocytic hyperplasia in the splenic red pulp

abnormal hematopoietic system physiology ( J:160883 )

• MEPs show EPO hypersensitivity

• gene set enrichment analysis indicates that hematopoietic differentiation in the LSK compartment is altered

enhanced megakaryocyte emperipolesis ( J:160883 )

• megakaryocytes with prominent emperipolesis are present in the bone marrow

immune system

increased leukocyte cell number ( J:160883 )

abnormal spleen morphology ( J:160883 )

• overall effacement of the normal architecture

enlarged spleen ( J:160883 )

abnormal spleen red pulp morphology ( J:160883 )

• marked erythroid and mild megakaryocytic hyperplasia in the splenic red pulp

growth/size/body

enlarged spleen ( J:160883 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycythemia vera		DOID:8997	OMIM:263300	J:160883

Genotype
MGI:5640746

cn3

• Allelic Composition: Jak2^tm1.2Ble/Jak2⁺; Picalm^tm1.1Tmae/Picalm⁺; Commd10^{Tg(Vav1-icre)A2Kio}/Commd10⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * CBA * SJL

hematopoietic system

increased erythrocyte cell number ( J:220728 )

• increased red blood cell counts

increased hematocrit ( J:220728 )

• high hematocrit

increased hemoglobin content ( J:220728 )

decreased mean corpuscular hemoglobin ( J:220728 )

decreased mean corpuscular volume ( J:220728 )

thrombocytosis ( J:220728 )

• mild thrombocytosis

reticulocytosis ( J:220728 )

• elevated reticulocyte counts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycythemia vera		DOID:8997	OMIM:263300	J:220728

Genotype
MGI:5640744

cn4

• Allelic Composition: Jak2^tm1.2Ble/Jak2⁺; Picalm^tm1.1Tmae/Picalm^tm1.1Tmae; Commd10^{Tg(Vav1-icre)A2Kio}/Commd10⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/10 * CBA * SJL

hematopoietic system

hypochromic microcytic anemia ( J:220728 )

decreased erythrocyte cell number ( J:220728 )

• decreased numbers of mature erythrocytes

decreased hematocrit ( J:220728 )

decreased hemoglobin content ( J:220728 )

decreased mean corpuscular hemoglobin ( J:220728 )

decreased mean corpuscular volume ( J:220728 )

decreased CD4-positive, alpha-beta T cell number ( J:220728 )

• decreased numbers of CD4+ T cells

decreased CD8-positive, alpha-beta T cell number ( J:220728 )

• decreased numbers of CD8+ T cells

reticulocytosis ( J:220728 )

• elevated reticulocyte counts

homeostasis/metabolism

abnormal iron homeostasis ( J:220728 )

• transferrin/transferrin receptor endocytic rate is decreased as compared to wild-type

immune system

decreased CD4-positive, alpha-beta T cell number ( J:220728 )

• decreased numbers of CD4+ T cells

decreased CD8-positive, alpha-beta T cell number ( J:220728 )

• decreased numbers of CD8+ T cells