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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Sf3b1tm1.1Mdf
targeted mutation 1.1, Mark D Fleming
MGI:5818977
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Sf3b1tm1.1Mdf/Sf3b1+
Tg(Mx1-cre)1Cgn/? 		involves: 129S4/SvJae * C57BL/6 * CBA/J MGI:5823482
cn2
 		Sf3b1tm1.1Mdf/Sf3b1+
Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(Mx1-cre)1Cgn/? 		involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA/J MGI:5823559


Genotype
MGI:5823482
cn1
Allelic
Composition		 Sf3b1tm1.1Mdf/Sf3b1+
Tg(Mx1-cre)1Cgn/?
Genetic
Background		 involves: 129S4/SvJae * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sf3b1tm1.1Mdf mutation (2 available); any Sf3b1 mutation (74 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hematopoietic system
abnormal erythropoiesis ( J:234976 )
• block in erythroblast development resulting in an increase in cells at development stage R2 and a decrease in R4 cell population in spleen and bone marrow 64 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 lower peripheral blood chimerism
• chimerism is lower in LT-HSC to committed myeloid progenitors
• increase in long term repopulating hematopoietic stem cells (LT-HSC) in bone marrow 45 and 64 weeks post-piPC treatment, however, repopulating ability is decrease
• decrease in percentage of granulocyte/monocyte progenitors
hypochromic macrocytic anemia ( J:234976 )
• progressive macrocytic anemia develops following pIPC injection
• anemia is present 4-8 weeks post-injection and is severe by 20 weeks
impaired hematopoiesis ( J:234976 )
• lower percentage of hematopoietic and stem progenitor cells in G1 and a higher percentage in G0 in vitro (24 weeks post-pIPC) as compared to control
decreased granulocyte monocyte progenitor cell number ( J:234976 )
• decrease in percentage of granulocyte/monocyte progenitors in aged mice
abnormal erythroid progenitor cell morphology ( J:234976 )
• increase in erythroid precursors in spleens is observed at 64 weeks post-pIPC
• erythroid dysplasia in spleens is observed at 47 weeks post-pIPC
decreased erythrocyte cell number ( J:234976 )
• total red blood cell number is decreased beginning at 20 weeks post-pIPC injection
• no differences in total white blood cell count, mature white blood cell lineages or platelet counts
increased mean corpuscular volume ( J:234976 )
• beginning at 20 weeks post-pIPC injectio
macrocytosis ( J:234976 )
• macrocytosis is apparent at 20 weeks post-pIPC injection
increased hematopoietic stem cell number ( J:234976 )
• increase in long term repopulating hematopoietic stem cells (LT-HSC) in bone marrow 64 weeks post-piPC treatment, however, repopulating ability is decreased
• no differences in short-term hematopoietic stem cells, multi potent progenitors, common myeloid progenitors, megakaryocytic/erythroid progenitors or colony forming units at 64 weeks post-pIPC
• increase in multi-potent progenitors (MPP) in bone marrow at 12 weeks, but not 45 weeks post-piPC treatment

homeostasis/metabolism
increased circulating erythropoietin level ( J:234976 )
• plasma erythropoietin levels are increased and persist for longer than 60 weeks post-pIPC as compared to wild-type

immune system
abnormal myelopoiesis ( J:234976 )
• transplantation of bone marrow from mutants into lethally irradiated CD45.1 recipient mice that were treated with pIPC results in lower peripheral blood chimerism
• chimerism is lower in LT-HSC to committed myeloid progenitors
• increase in long term repopulating hematopoietic stem cells (LT-HSC) in bone marrow 45 and 64 weeks post-piPC treatment, however, repopulating ability is decrease
• decrease in percentage of granulocyte/monocyte progenitors

mortality/aging
premature death ( J:234976 )
• 2 mice (18%) die by 64 weeks post piPC no wild-type mice die during this time




Genotype
MGI:5823559
cn2
Allelic
Composition		 Sf3b1tm1.1Mdf/Sf3b1+
Tet2tm1.1Iaai/Tet2tm1.1Iaai
Tg(Mx1-cre)1Cgn/?
Genetic
Background		 involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sf3b1tm1.1Mdf mutation (2 available); any Sf3b1 mutation (74 available)
Tet2tm1.1Iaai mutation (2 available); any Tet2 mutation (778 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
♀ 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 Sf3b1tm1.1Mdf 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 Sf3b1tm1.1Mdf 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 Sf3b1tm1.1Mdf 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




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08/02/2024
MGI 6.24 		The Jackson Laboratory