Phenotypes Associated with This Genotype

Genotype
MGI:2670890

• 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