Phenotypes Associated with This Genotype

Genotype
MGI:3845014

• Allelic Composition: Ptpn11^tm6Bgn/Ptpn11⁺; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

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

mortality/aging

premature death ( J:148430 )

• all mice die within 45 weeks after receiving pIpC injections

hematopoietic system

enlarged spleen ( J:148430 )

• following pIpC injections mice develop splenomegaly

abnormal definitive hematopoiesis ( J:148430 )

• following pIpC injections cultured bone marrow megakaryocyte-erythrocyte progenitor cells produce fewer erythrocyte colony-forming unit colonies and more, larger erythroid burst-forming unit colonies

• the myeloproliferative disorder seen after pIpC injections does not develop in irradiated mice engrafted with cells from diseased mice

decreased common myeloid progenitor cell number ( J:148430 )

• following pIpC injections common myeloid progenitor cell numbers are reduced in the bone marrow

abnormal erythropoiesis ( J:148430 )

• following pIpC injections cultured erythroid progenitors produce fewer erythrocyte colony-forming unit colonies

abnormal leukopoiesis ( J:148430 )

• following pIpC injections both bone marrow and spleen cells form increased numbers of cytokine independent colonies that are primarily macrophage colony forming units and granulocyte colony forming units

extramedullary hematopoiesis ( J:148430 )

• following pIpC injections mice develop marked extramedullary hematopoiesis with an increase in the numbers of long term and short term hematopoietic stem cells and granulocyte-monocyte progenitor cells following pIpC injections

anemia ( J:148430 )

• following pIpC injections mice develop anemia

abnormal bone marrow cell number ( J:148430 )

• following pIpC injections increased numbers of immature predominantly granulocytic cells are found in the bone marrow

decreased bone marrow cell number ( J:148430 )

• following pIpC injections total bone marrow cellularity is decreased

decreased granulocyte monocyte progenitor cell number ( J:148430 )

• following pIpC injections granulocyte-monocyte progenitor cell numbers are reduced in the bone marrow

increased leukocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive leukocytosis

increased granulocyte number ( J:148430 )

• following pIpC injections mice develop progressive granulocytosis

increased monocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive monocytosis

decreased hematopoietic stem cell number ( J:148430 )

• following pIpC injections the sizes of the Lin-Sca1+cKit+ (LSK) and Lin-Sca1-cKit+ (LK) compartments in the bone marrow are reduced

• following pIpC injections fewer cells in the LSK compartment are quiescent and these cells are hypersensitive to stem cell factor

• following pIpC injections the number of long term hematopoietic stem cells is reduced

intermingled spleen red and white pulp ( J:148430 )

• following pIpC injections infiltration of mature myeloid cells into the red pulp is seen

abnormal splenic cell ratio ( J:148430 )

• following pIpC injections the ratio of Mac1+Gr1+ cells is increased 9 to 10 fold, the ratio of erythroid progenitors is increased 6 to 7 fold, and the relative number of T cells is decreased

liver/biliary system

abnormal liver sinusoid morphology ( J:148430 )

• following pIpC injections periportal cuffing of liver sinusoids with infiltrating granulocytes is seen

enlarged liver ( J:148430 )

• following pIpC injections mice develop hepatomegaly

immune system

enlarged spleen ( J:148430 )

• following pIpC injections mice develop splenomegaly

abnormal leukopoiesis ( J:148430 )

• following pIpC injections both bone marrow and spleen cells form increased numbers of cytokine independent colonies that are primarily macrophage colony forming units and granulocyte colony forming units

increased leukocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive leukocytosis

increased granulocyte number ( J:148430 )

• following pIpC injections mice develop progressive granulocytosis

increased monocyte cell number ( J:148430 )

• following pIpC injections mice develop progressive monocytosis

intermingled spleen red and white pulp ( J:148430 )

• following pIpC injections infiltration of mature myeloid cells into the red pulp is seen

abnormal splenic cell ratio ( J:148430 )

• following pIpC injections the ratio of Mac1+Gr1+ cells is increased 9 to 10 fold, the ratio of erythroid progenitors is increased 6 to 7 fold, and the relative number of T cells is decreased

cardiovascular system

abnormal liver sinusoid morphology ( J:148430 )

• following pIpC injections periportal cuffing of liver sinusoids with infiltrating granulocytes is seen

growth/size/body

enlarged liver ( J:148430 )

• following pIpC injections mice develop hepatomegaly

enlarged spleen ( J:148430 )

• following pIpC injections mice develop splenomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
juvenile myelomonocytic leukemia		DOID:0050458	OMIM:607785	J:148430