Phenotypes Associated with This Genotype

Genotype
MGI:5787929

• Allelic Composition: Nf1^tm1Fcr/Nf1⁺; Pten^tm1Hwu/Pten^tm1Hwu; Tg(Mx1-cre)1Cgn/0
• Genetic Background: B6.Cg-Tg(Mx1-cre)1Cgn Nf1^tm1Fcr Pten^tm1Hwu

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

mortality/aging

premature death ( J:232645 )

• mice injected intraperitoneally with poly(I:C) at P8 to induce loss of Pten all die at 20 to 35 days of age

hematopoietic system

abnormal hemopoiesis ( J:232645 )

• mice injected with poly(I:C) at P8 develop myeloproliferative neoplasm with clinical manifestations of Juvenile myelomonocytic leukemia at 2-3 weeks post induction

anemia ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit anemia 2-3 weeks post induction

decreased bone marrow cell number ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit reduced total cell numbers in bone marrow at 2-3 weeks post induction

decreased hemoglobin content ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit decreased hemoglobin 2-3 weeks post induction

thrombocytosis ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased platelets 2-3 weeks post induction

decreased lymphocyte cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show a reduction in lymphocytes 2-3 weeks post induction

decreased B cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show decreased B-cell (CD19+) populations in PB and spleen at 2-3 weeks post induction

decreased T cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show decreased T-cell (CD3e+) populations in PB and spleen at 2-3 weeks post induction

increased leukocyte cell number ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit a modest elevation in white blood cells 2-3 weeks post poly(I:C) treatment

increased granulocyte number ( J:232645 )

• mice injected with poly(I:C) at P8 show an elevation in granulocytes in bone marrow, blood, and spleen 2-3 weeks post induction

increased macrophage cell number ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased macrophages in bone marrow, blood, and spleen at 2-3 weeks post induction

increased monocyte cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show an elevation in monocytes in bone marrow, blood, and spleen 2-3 weeks post induction

abnormal hematopoietic stem cell morphology ( J:232645 )

• bone marrow of mice injected with poly(I:C) at P8 shows decreased hematopoietic progenitor cells, including LIN-, LIN-Sca1-1-, cKit+, and LIN-Sca1-1+cKit+, are decreased, with less apoptosis

• spleen of mice injected with poly(I:C) at P8 shows an increase in hematopoietic progenitor cells

abnormal spleen morphology ( J:232645 )

• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage and granulocyte infiltration in the spleen at 2-3 weeks post induction

• spleen of mice injected with poly(I:C) at P8 shows an increase in hematopoietic progenitor cells

enlarged spleen ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased spleen size

increased spleen weight ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased spleen weight

immune system

decreased lymphocyte cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show a reduction in lymphocytes 2-3 weeks post induction

decreased B cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show decreased B-cell (CD19+) populations in PB and spleen at 2-3 weeks post induction

decreased T cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show decreased T-cell (CD3e+) populations in PB and spleen at 2-3 weeks post induction

increased leukocyte cell number ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit a modest elevation in white blood cells 2-3 weeks post poly(I:C) treatment

increased granulocyte number ( J:232645 )

• mice injected with poly(I:C) at P8 show an elevation in granulocytes in bone marrow, blood, and spleen 2-3 weeks post induction

increased macrophage cell number ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased macrophages in bone marrow, blood, and spleen at 2-3 weeks post induction

increased monocyte cell number ( J:232645 )

• mice injected with poly(I:C) at P8 show an elevation in monocytes in bone marrow, blood, and spleen 2-3 weeks post induction

abnormal spleen morphology ( J:232645 )

• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage and granulocyte infiltration in the spleen at 2-3 weeks post induction

• spleen of mice injected with poly(I:C) at P8 shows an increase in hematopoietic progenitor cells

enlarged spleen ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased spleen size

increased spleen weight ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased spleen weight

liver/biliary system

abnormal liver morphology ( J:232645 )

• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage infiltration in the liver at 2-3 weeks post induction

enlarged liver ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased liver size

increased liver weight ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased liver weight

neoplasm

increased tumor incidence ( J:232645 )

• mice injected with poly(I:C) at P8 develop myeloproliferative neoplasm with clinical manifestations of Juvenile myelomonocytic leukemia at 2-3 weeks post induction

• recipient mice transplanted with bone marrow nucleated cells from mutants develop an indolent myelodysplastic syndrome or myeloproliferative neoplasm by 8 weeks posttransplantation

• mice injected with poly(I:C) at 6 weeks of age develop a transient myeloproliferative neoplasm after 3 weeks post induction and 1/7 transform to T-ALL

increased T cell acute lymphoblastic leukemia incidence ( J:232645 )

• mice injected with poly(I:C) at 6 weeks of age develop a transient myeloproliferative neoplasm after 3 weeks post induction and 1/7 transform to T-ALL

respiratory system

abnormal lung morphology ( J:232645 )

• mice injected with poly(I:C) at P8 show substantial monocyte/macrophage infiltration in the spleens, livers, and lungs at 2-3 weeks post induction

skeleton

abnormal bone marrow morphology ( J:232645 )

• mice injected with poly(I:C) at P8 show increases in monocytes/macrophages and granulocytes in the bone marrow at 2-3 weeks post induction

• bone marrow of mice injected with poly(I:C) at P8 shows decreased hematopoietic progenitor cells, including LIN-, LIN-Sca1-1-, cKit+, and LIN-Sca1-1+cKit+, are decreased, with less apoptosis

growth/size/body

enlarged liver ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased liver size

increased liver weight ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased liver weight

enlarged spleen ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased spleen size

increased spleen weight ( J:232645 )

• mice injected with poly(I:C) at P8 exhibit increased spleen weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
juvenile myelomonocytic leukemia		DOID:0050458	OMIM:607785	J:232645