Phenotypes Associated with This Genotype

Genotype
MGI:6456066

• Allelic Composition: Diaph3^tm1.1Pji/Diaph3^tm1.1Pji; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: C57BL/6J * CBA/J

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

hematopoietic system

enlarged spleen ( J:293763 )

• polyI:C-treated mice exhibit splenomegaly

abnormal erythropoiesis ( J:293763 )

• polyI:C-treated mice exhibit ineffective erythropoiesis in which most of the erythroid precursors are blocked in the orthochromatic to reticulocyte stages

• bone marrow erythroblasts from populations I to III (proerythroblasts, basophilic erythroblasts, and polychromatic erythroblasts) are proportionally increased while populations IV to VI (orthochromatic erythroblasts, reticulocytes, and mature red blood cells), especially the reticulocytes are decreased

• populations I to III (proerythroblasts, basophilic erythroblasts, and polychromatic erythroblasts) are proportionally increased in the spleen

• Ter119+ erythroblasts from both bone marrow and spleen show an increase in G2/M phase and most of the binucleated erythroblasts are in stage IV orthochromatic phase of differentiation in bone marrow

• a small portion of the erythroid cells in bone marrow, but not spleen, undergo cell death

extramedullary hematopoiesis ( J:293763 )

• polyI:C-treated mice exhibit an extramedullary erythropoiesis in the spleen that compensates ineffective erythropoiesis in bone marrow

anemia ( J:293763 )

• mice induced with polyinosinic-polycytidylic acid (polyI:C) at 6 weeks of age exhibit anemia at 10 weeks after induction

decreased erythrocyte cell number ( J:293763 )

• mice exhibit decreased total red blood count following induction with polyI:C

decreased hematocrit ( J:293763 )

• mice exhibit decreased hematocrit following induction with polyI:C

decreased hemoglobin content ( J:293763 )

• mice exhibit decreased hemoglobin following induction with polyI:C

increased red blood cell distribution width ( J:293763 )

• red cell distribution width is increased, indicating variation in size of red blood cells, in polyI:C treated mice

anisopoikilocytosis ( J:293763 )

• polyI:C-treated mice exhibit anemia with anisopoikilocytosis including macrocytes, microcytes, occasional spherocytes, and hypochromic cells

polychromatophilia ( J:293763 )

• polychromasia is increased with abnormally large reticulocytes

growth/size/body

enlarged spleen ( J:293763 )

• polyI:C-treated mice exhibit splenomegaly

immune system

enlarged spleen ( J:293763 )

• polyI:C-treated mice exhibit splenomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital dyserythropoietic anemia		DOID:1338	OMIM:PS224120	J:293763