Phenotypes associated with this allele

• Allele Symbol: Mybl2^tm1.1Jof
• Allele Name: targeted mutation 1.1, Jon Frampton
• Allele ID: MGI:3610476
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mybl2^tm1.1Jof/Mybl2^tm1.1Jof	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3613613
cn2	Mybl2^tm1.1Jof/Mybl2^tm1.1Jof Tg(Mx1-cre)1Cgn/0	involves: 129S2/SvPas * C57BL/6 * CBA * SJL	MGI:3613614
cn3	Mybl2^tm1.1Jof/Mybl2^+ Tg(Zp3-cre)3Mrt/0	involves: 129S2/SvPas * C57BL/6 * FVB/N	MGI:5518769

Genotype
MGI:3613613

hm1

• Allelic Composition: Mybl2^tm1.1Jof/Mybl2^tm1.1Jof
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:103413 )

• mice homozygous for a loxP flanked allele are viable and reach adulthood with normal Mendelian frequency

Genotype
MGI:3613614

cn2

• Allelic Composition: Mybl2^tm1.1Jof/Mybl2^tm1.1Jof; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA * SJL

cellular

abnormal cell cycle ( J:103413 )

• fibroblasts isolated from floxed/Mx-Cre mice exhibit cell cycle defects when the cre transgene is induced

• results suggest that this protein is required for S phase and is required for the correct progression of DNA replication

Genotype
MGI:5518769

cn3

• Allelic Composition: Mybl2^tm1.1Jof/Mybl2⁺; Tg(Zp3-cre)3Mrt/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * FVB/N

hematopoietic system

enlarged spleen ( J:196804 )

• 9 of 13 mice have enlarged spleens at 22 months of age

abnormal myelopoiesis ( J:196804 )

• 12 of 13 mice at 22 months of age show multiple myeloid disorders

• 46% (6 of 13) of mice develop myelodysplasia (MDS)

• 38% (5 of 13) of mice develop myeloproliferative neoplasms (MPN)

• 7% (1 of 13) of mice develop myeloid leukemia

• transplantation of mutant bone marrow cells into lethally irradiated recipients accelerates development of MDS

myeloid hyperplasia ( J:196804 )

• peripheral blood and spleen of mice that develop MDS show an increase in myeloid populations

• 3 of 5 mice that develop MPN, with or without anemia, with or without thrombocytopenia, show an increase in the myeloid population in peripheral blood, bone marrow, and spleen

anemia ( J:196804 )

• signs of anemia and changes in white blood cell counts are detectable between 12 and 18 months of age and exacerbated by 22 months

increased bone marrow cell number ( J:196804 )

• mutants that develop MPN show myeloproliferation in the bone marrow with high cellularity and practically no fat cells

increased megakaryocyte cell number ( J:196804 )

abnormal erythrocyte morphology ( J:196804 )

• peripheral blood of mice that develop MDS shows dyserythropoiesis that includes anisocytosis and poikilocytosis and the presence of Howell-Jolly bodies

decreased erythrocyte cell number ( J:196804 )

• decrease in red blood cells in mice that develop MDS or MPN

anisocytosis ( J:196804 )

• in mice that develop MDS

increased number of Howell-Jolly bodies ( J:196804 )

• in mice that develop MDS

poikilocytosis ( J:196804 )

• in mice that develop MDS

thrombocytopenia ( J:196804 )

• some mice show thrombocytopenia and others thrombocytosis

thrombocytosis ( J:196804 )

• some mice show thrombocytopenia and others thrombocytosis

decreased leukocyte cell number ( J:196804 )

• decrease in white blood cells in mice that develop MDS

decreased neutrophil cell number ( J:196804 )

• peripheral blood of mice that develop MDS shows neutropenia

increased leukocyte cell number ( J:196804 )

• increase in white blood cells in mice that develop MPN

increased granulocyte number ( J:196804 )

• the mouse that develops myeloid leukemia shows a dramatic increase in the percentage of granulocytes

increased monocyte cell number ( J:196804 )

• the mouse that develops myeloid leukemia shows a dramatic increase in the percentage of monocytes

immune system

enlarged spleen ( J:196804 )

• 9 of 13 mice have enlarged spleens at 22 months of age

abnormal myelopoiesis ( J:196804 )

• 12 of 13 mice at 22 months of age show multiple myeloid disorders

• 46% (6 of 13) of mice develop myelodysplasia (MDS)

• 38% (5 of 13) of mice develop myeloproliferative neoplasms (MPN)

• 7% (1 of 13) of mice develop myeloid leukemia

• transplantation of mutant bone marrow cells into lethally irradiated recipients accelerates development of MDS

myeloid hyperplasia ( J:196804 )

• peripheral blood and spleen of mice that develop MDS show an increase in myeloid populations

• 3 of 5 mice that develop MPN, with or without anemia, with or without thrombocytopenia, show an increase in the myeloid population in peripheral blood, bone marrow, and spleen

decreased leukocyte cell number ( J:196804 )

• decrease in white blood cells in mice that develop MDS

decreased neutrophil cell number ( J:196804 )

• peripheral blood of mice that develop MDS shows neutropenia

increased leukocyte cell number ( J:196804 )

• increase in white blood cells in mice that develop MPN

increased granulocyte number ( J:196804 )

• the mouse that develops myeloid leukemia shows a dramatic increase in the percentage of granulocytes

increased monocyte cell number ( J:196804 )

• the mouse that develops myeloid leukemia shows a dramatic increase in the percentage of monocytes

neoplasm

increased leukemia incidence ( J:196804 )

• 7% (1 of 13) of mice develop myeloid leukemia with marked leukocytosis, anemia, and in increase in the number of platelets

• the one mouse that develops a myeloid neoplasm shows the mild increase in platelet number and anemia at 12 to 18 months of age, whereas the massive increase of white blood cells starts after 18 months of age

• the mouse that develops a myeloid neoplasm shows immature myeloid cells in the blood, exhibits white bones, splenomegaly, and disruption of spleen architecture with loss of lymphatic follicles and an increase in the number of megakaryocytes and infiltration of myeloid cells in the liver

growth/size/body

enlarged spleen ( J:196804 )

• 9 of 13 mice have enlarged spleens at 22 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute myeloid leukemia		DOID:9119	OMIM:601626	J:196804
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:196804