Phenotypes Associated with This Genotype

Genotype
MGI:5823559

• Allelic Composition: Sf3b1^tm1.1Mdf/Sf3b1⁺; Tet2^tm1.1Iaai/Tet2^tm1.1Iaai; Tg(Mx1-cre)1Cgn/?
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA/J

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

hematopoietic system

enlarged spleen ( J:234976 )

• post-piPC treatment

abnormal erythropoiesis ( J:234976 )

• block in erythroblast development results in an increase in cells at development stage R2 and a decrease in R4 population in spleen by 12 weeks post-piPC

abnormal myelopoiesis ( J:234976 )

• transplantation of bone marrow from mutants into lethally irradiated CD45.1 recipient mice that were treated with pIPC results in increasing (46.5% to 90%) donor chimerism beginning at 16 weeks post transplantation as compared to mice carrying only the Sf3b1^tm1.1Mdf allele and wild-type

hypochromic macrocytic anemia ( J:234976 )

• progressive macrocytic anemia 45 weeks post pIPC treatment

abnormal megakaryocyte morphology ( J:234976 )

• spleens contain dysplastic megakaryocytes 45 weeks post-piPC treatment

abnormal erythroid progenitor cell morphology ( J:234976 )

• spleens contain dysplastic erythroid progenitors 45 weeks post-piPC treatment

increased mean corpuscular volume ( J:234976 )

• observed at 45 weeks post-pIPC injection

• phenotype is increased in severity as compared to mice carrying only the Sf3b1^tm1.1Mdf allele

macrocytosis ( J:234976 )

• post-pIPC treatment

increased granulocyte number ( J:234976 )

• increased percentage of granulocytes in peripheral blood and bone marrow at 45 weeks post-pIPC

decreased B cell number ( J:234976 )

• decrease in percentage of B cells in the spleen and bone marrow 45 weeks post-pIPC

increased hematopoietic stem cell number ( J:234976 )

• increase in long term repopulating hematopoietic stem cells (LT-HSC) at 12 and 45 weeks as compared to wild-type

• increase in multi-potent progenitors (MPP) in bone marrow 12 weeks post-piPC treatment

immune system

enlarged spleen ( J:234976 )

• post-piPC treatment

abnormal myelopoiesis ( J:234976 )

• transplantation of bone marrow from mutants into lethally irradiated CD45.1 recipient mice that were treated with pIPC results in increasing (46.5% to 90%) donor chimerism beginning at 16 weeks post transplantation as compared to mice carrying only the Sf3b1^tm1.1Mdf allele and wild-type

increased granulocyte number ( J:234976 )

• increased percentage of granulocytes in peripheral blood and bone marrow at 45 weeks post-pIPC

decreased B cell number ( J:234976 )

• decrease in percentage of B cells in the spleen and bone marrow 45 weeks post-pIPC

growth/size/body

enlarged spleen ( J:234976 )

• post-piPC treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:234976