Phenotypes Associated with This Genotype

Genotype
MGI:3584534

• Allelic Composition: Zfpm1^tm2Sho/Zfpm1^tm2Sho
• Genetic Background: either: (involves: 129S1/Sv) or (involves: 129S1/Sv * C57BL/6)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:47281 )

• die between E10.5 and E12.5

growth/size/body

decreased embryo size ( J:47281 )

embryo

abnormal vitelline vasculature morphology ( J:47281 )

• yolk sac vessels appear very pale and thin at E11.5 and the small capillaries appear dilated

decreased embryo size ( J:47281 )

pale yolk sac ( J:47281 )

abnormal embryonic erythropoiesis ( J:47281 )

• primative erythroid cells appear to be partially arrested, with many cells resembling proerythroblasts

liver/biliary system

small liver ( J:47281 )

• 4-5 times smaller than wild-type

pale liver ( J:47281 )

hematopoietic system

abnormal megakaryocyte differentiation ( J:47281 )

• no mature megakaryocyte colonies or cells are obtained from yolk sacs or fetal livers and ES cells fail to differentiate into mature megakaryocytic cells in vitro, indicating an early block in megakaryocyte development

abnormal embryonic erythropoiesis ( J:47281 )

• primative erythroid cells appear to be partially arrested, with many cells resembling proerythroblasts

abnormal erythropoiesis ( J:47281 )

• definitive erythropoiesis is severely impaired as yolk sacs and fetal livers do not generate normal hemoglobinized colony-forming unit-erythroid (CFU-E) and burst-forming unit-erythroid (BFU-E) colonies and ES cells fail to differentiate into mature erythroid cells

anemia ( J:47281 )

• severe

impaired hematopoiesis ( J:47281 )

• primative erythroid cells appear to be partially arrested, with many cells resembling proerythroblasts

• red blood cells exhibit a prominent delay in nuclear versus cytoplasmic maturation (megaloblastosis)

cardiovascular system

abnormal vitelline vasculature morphology ( J:47281 )

• yolk sac vessels appear very pale and thin at E11.5 and the small capillaries appear dilated

integument

pallor ( J:47281 )

cellular

abnormal megakaryocyte differentiation ( J:47281 )

• no mature megakaryocyte colonies or cells are obtained from yolk sacs or fetal livers and ES cells fail to differentiate into mature megakaryocytic cells in vitro, indicating an early block in megakaryocyte development