Phenotypes associated with this allele

• Allele Symbol: Ikzf1^plstc
• Allele Name: plastic
• Allele ID: MGI:2669987
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ikzf1^plstc/Ikzf1^plstc	C57BL/6JSfdAnu-Ikzf1^plstc	MGI:2670890
ht2	Ikzf1^plstc/Ikzf1^+	C57BL/6JSfdAnu-Ikzf1^plstc	MGI:2670891
ht3	Ikzf1^plstc/Ikzf1^tm2Kge	involves: 129S4/SvJae * C57BL/6 * C57BL/6JSfdAnu	MGI:4442838

Genotype
MGI:2670890

hm1

• Allelic Composition: Ikzf1^plstc/Ikzf1^plstc
• Genetic Background: C57BL/6JSfdAnu-Ikzf1^plstc

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:84569 )

• all homozygotes die between E15.5-E17.5 as a result of fatal fetal anemia

hematopoietic system

abnormal macrophage differentiation ( J:84569 )

• excessive macrophage formation

thymus hypoplasia ( J:84569 )

• at E15.5, fetal thymus cellularity is reduced to 10% of wild-type controls

abnormal lymphopoiesis ( J:84569 )

• homozygotes show a complete failure of T and B cell differentiation

• any remaining cells in fetal thymi are B220⁺CD19^- cells, suggesting that lymphocyte differentiation abortively forms B cell precursors instead of T lineage cells

absent pro-B cells ( J:84569 )

• at E15.5, homozygotes lack committed B220⁺CD19⁺ pro-B cells in fetal liver, unlike wild-type controls

arrested B cell differentiation ( J:84569 )

• at E15.5, B cell differentiation fails to progress beyond the B220⁺CD19^- stage in fetal liver, unlike in wild-type controls

abnormal myelopoiesis ( J:84569 )

• at E15.5, homozygotes show a marked expansion of myeloid cells in fetal liver due to a 330% increase in granulocyte/macrophage progenitor numbers in the earliest stages of myeloid lineage

• a significant increase is seen in more mature and granular Mac-1^hi (390%) and Gr-1^lo (210%) cells

abnormal granulocyte differentiation ( J:84569 )

• terminal granulocyte differentiation in fetal liver is impaired resulting in absence of Gr-1^hi cells

anemia ( J:84569 )

• at E14.5-E15.5, live homozygous fetuses are extremely anemic with a severe deficit of RBCs in vitelline and umbilical circulation

• however, no defect in the production of adult globins nor any chain imbalance in globin is observed, suggesting that thalassemia is not the cause of fetal fatal anemia

decreased erythroid progenitor cell number ( J:84569 )

• at E14.5-E15.5, BFU-E and CFU-E counts in fetal liver are reduced by 40% relative to those in heterozygous or wild-type controls

• the numbers of cells in the early to late erythroblast stages of differentiation are reduced 80% relative to those in wild-type controls

abnormal erythroblast morphology ( J:84569 )

• homozygotes display failure of erythroblast growth and differentiation

decreased erythrocyte cell number ( J:84569 )

• at E14.5-E15.5, total RBC counts are less than 20% of those in heterozygous or wild-type controls

• mature anucleate erythrocytes are reduced to 10% of controls

decreased fetal derived definitive erythrocyte cell number ( J:84569 )

• at E15.5, fetal liver-derived anucleate erythrocytes are scarce; those present are often small and sometimes nucleated

• at E15.5, normoblast numbers are significantly reduced in fetal liver

decreased hematocrit ( J:84569 )

• at E14.5-E15.5, live homozygous fetuses display a 4-fold reduction of hematocrit in peripheral blood relative to wild-type controls

decreased hemoglobin content ( J:84569 )

• at E14.5-E15.5, live homozygous fetuses show a 4-fold reduction of hemoglobin levels in peripheral blood relative to wild-type controls

decreased granulocyte number ( J:84569 )

• at E15.5, Gr-1^hi granulocytes are absent in fetal liver

absent T cells ( J:84569 )

• at E15.5, homozygotes show complete absence of Thy1⁺ cells in fetal liver

increased macrophage cell number ( J:84569 )

• at E15.5, homozygotes show a 390% increase in Mac-1^hi cells in fetal liver

reticulocytopenia ( J:84569 )

• at E15.5, non-nucleated reticulocyte numbers are significantly reduced in fetal liver

immune system

abnormal macrophage differentiation ( J:84569 )

• excessive macrophage formation

thymus hypoplasia ( J:84569 )

• at E15.5, fetal thymus cellularity is reduced to 10% of wild-type controls

abnormal lymphopoiesis ( J:84569 )

• homozygotes show a complete failure of T and B cell differentiation

• any remaining cells in fetal thymi are B220⁺CD19^- cells, suggesting that lymphocyte differentiation abortively forms B cell precursors instead of T lineage cells

absent pro-B cells ( J:84569 )

• at E15.5, homozygotes lack committed B220⁺CD19⁺ pro-B cells in fetal liver, unlike wild-type controls

arrested B cell differentiation ( J:84569 )

• at E15.5, B cell differentiation fails to progress beyond the B220⁺CD19^- stage in fetal liver, unlike in wild-type controls

abnormal myelopoiesis ( J:84569 )

• at E15.5, homozygotes show a marked expansion of myeloid cells in fetal liver due to a 330% increase in granulocyte/macrophage progenitor numbers in the earliest stages of myeloid lineage

• a significant increase is seen in more mature and granular Mac-1^hi (390%) and Gr-1^lo (210%) cells

abnormal granulocyte differentiation ( J:84569 )

• terminal granulocyte differentiation in fetal liver is impaired resulting in absence of Gr-1^hi cells

decreased granulocyte number ( J:84569 )

• at E15.5, Gr-1^hi granulocytes are absent in fetal liver

absent T cells ( J:84569 )

• at E15.5, homozygotes show complete absence of Thy1⁺ cells in fetal liver

increased macrophage cell number ( J:84569 )

• at E15.5, homozygotes show a 390% increase in Mac-1^hi cells in fetal liver

liver/biliary system

liver hypoplasia ( J:84569 )

• at E15.5, fetal liver cellularity is reduced to half that of wild-type controls

integument

pallor ( J:84569 )

• at E14.5-E15.5, live homozygous fetuses are extremely pale

cellular

abnormal granulocyte differentiation ( J:84569 )

• terminal granulocyte differentiation in fetal liver is impaired resulting in absence of Gr-1^hi cells

abnormal macrophage differentiation ( J:84569 )

• excessive macrophage formation

endocrine/exocrine glands

thymus hypoplasia ( J:84569 )

• at E15.5, fetal thymus cellularity is reduced to 10% of wild-type controls

Genotype
MGI:2670891

ht2

• Allelic Composition: Ikzf1^plstc/Ikzf1⁺
• Genetic Background: C57BL/6JSfdAnu-Ikzf1^plstc

mortality/aging

premature death ( J:84569 )

• heterozygotes show a decline in survival after 2 months of age, with 65% dying at ~4 months of age with T cell leukemia/lymphomas

neoplasm

increased T cell derived lymphoma incidence ( J:84569 )

• >65% of heterozygotes develop T cell lymphomas at an average age of 120 days

• the predominant malignant cell type is positive for the CD3-TCRalphabeta complex and Thy1

• individual lymphomas vary in stage of T cell maturity, with CD44^-25^-4^-8⁺ and CD44^-25^-4⁺8⁺ stages of differentiation found in 32.5% of heterozygotes

increased leukemia incidence ( J:84569 )

hematopoietic system

decreased thymocyte number ( J:84569 )

• at E15.5, thymocyte numbers are reduced to 50% of wild-type controls

abnormal lymphopoiesis ( J:84569 )

• heterozygotes display a partial block in lymphopoiesis

abnormal B cell differentiation ( J:84569 )

• at E15.5, B cell differentiation fails to progress beyond the B220⁺CD19^- stage in fetal liver, unlike in wild-type controls; however, normal numbers of B220⁺CD19⁺ cells are found in bone marrow at 4 weeks after birth

• at 4 weeks of age, B cell differentiation past the IgH-gene rearrangement checkpoint is reduced in the bone marrow; however, B cells that overcome this partial block establish normal mature B cell compartments and express normal levels of IgM, IgD, CD21 and CD23

increased pro-B cell number ( J:84569 )

• at 4 weeks of age, heterozygotes show significant accumulation of B220^loCD43⁺ pro-B cells (180%) in the bone marrow

abnormal T cell differentiation ( J:84569 )

• at E15.5, heterozygotes display an incomplete block in T cell differentiation relative to wild-type controls

• however, normal subsets of thymocytes and mature T cells are found at 4 weeks after birth, with significantly higher numbers of total Thy1⁺ cells in spleen (145%), consistent with a preleukemic stage

decreased double-negative T cell number ( J:84569 )

• at E15.5, double-negative Thy1⁺ precursor numbers are reduced to 50% of wild-type controls

decreased double-positive T cell number ( J:84569 )

• at E15.5, heterozygotes lack double-positive Thy1⁺ precursor cells

myeloid hyperplasia ( J:84569 )

• at E15.5, heterozygotes show an intermediate level of myeloid hyperplasia in fetal liver

• however, Gr-1^hi cell numbers are normal, indicating that terminal granulocyte differentiation is not impaired in fetal liver

decreased mature B cell number ( J:84569 )

• at 4 weeks of age, heterozygotes show a 50% reduction in B220^hiCD43^- mature B cells in the bone marrow

decreased pre-B cell number ( J:84569 )

• at 4 weeks of age, heterozygotes show a 20% reduction in B220^loCD43^- pre-B cells in the bone marrow

immune system

decreased thymocyte number ( J:84569 )

• at E15.5, thymocyte numbers are reduced to 50% of wild-type controls

abnormal lymphopoiesis ( J:84569 )

• heterozygotes display a partial block in lymphopoiesis

abnormal B cell differentiation ( J:84569 )

• at E15.5, B cell differentiation fails to progress beyond the B220⁺CD19^- stage in fetal liver, unlike in wild-type controls; however, normal numbers of B220⁺CD19⁺ cells are found in bone marrow at 4 weeks after birth

• at 4 weeks of age, B cell differentiation past the IgH-gene rearrangement checkpoint is reduced in the bone marrow; however, B cells that overcome this partial block establish normal mature B cell compartments and express normal levels of IgM, IgD, CD21 and CD23

increased pro-B cell number ( J:84569 )

• at 4 weeks of age, heterozygotes show significant accumulation of B220^loCD43⁺ pro-B cells (180%) in the bone marrow

abnormal T cell differentiation ( J:84569 )

• at E15.5, heterozygotes display an incomplete block in T cell differentiation relative to wild-type controls

• however, normal subsets of thymocytes and mature T cells are found at 4 weeks after birth, with significantly higher numbers of total Thy1⁺ cells in spleen (145%), consistent with a preleukemic stage

decreased double-negative T cell number ( J:84569 )

• at E15.5, double-negative Thy1⁺ precursor numbers are reduced to 50% of wild-type controls

decreased double-positive T cell number ( J:84569 )

• at E15.5, heterozygotes lack double-positive Thy1⁺ precursor cells

myeloid hyperplasia ( J:84569 )

• at E15.5, heterozygotes show an intermediate level of myeloid hyperplasia in fetal liver

• however, Gr-1^hi cell numbers are normal, indicating that terminal granulocyte differentiation is not impaired in fetal liver

decreased mature B cell number ( J:84569 )

• at 4 weeks of age, heterozygotes show a 50% reduction in B220^hiCD43^- mature B cells in the bone marrow

decreased pre-B cell number ( J:84569 )

• at 4 weeks of age, heterozygotes show a 20% reduction in B220^loCD43^- pre-B cells in the bone marrow

liver/biliary system

liver hypoplasia ( J:84569 )

• at E15.5, fetal liver cellularity is moderately decreased relative to that in wild-type controls

endocrine/exocrine glands

decreased thymocyte number ( J:84569 )

• at E15.5, thymocyte numbers are reduced to 50% of wild-type controls

increased T cell derived lymphoma incidence ( J:84569 )

• >65% of heterozygotes develop T cell lymphomas at an average age of 120 days

• the predominant malignant cell type is positive for the CD3-TCRalphabeta complex and Thy1

• individual lymphomas vary in stage of T cell maturity, with CD44^-25^-4^-8⁺ and CD44^-25^-4⁺8⁺ stages of differentiation found in 32.5% of heterozygotes

Genotype
MGI:4442838

ht3

• Allelic Composition: Ikzf1^plstc/Ikzf1^tm2Kge
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6JSfdAnu

hematopoietic system

abnormal erythropoiesis ( J:84569 )

• at E15.5, compound heterozygotes display an erythropoietic failure in fetal liver and blood similar to that observed in Ikzf1^plstc homozygotes

anemia ( J:84569 )

• compound heterozygotes are severely anemic, similar to Ikzf1^plstc homozygotes