Phenotypes Associated with This Genotype

Genotype
MGI:3798923

• Allelic Composition: Nfe2^tm1Sho/Nfe2^tm1Sho
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

decreased survivor rate ( J:20132 )

• less than 10% of mice survive to adulthood

neonatal lethality, incomplete penetrance ( J:20132 )

• a majority of mice die during the neonatal period due to hemorrhage

• less than 10% of mice survive to adulthood

hematopoietic system

anemia ( J:20132 )

• mice that survive into adulthood exhibit intermittent anemia

abnormal megakaryocyte morphology ( J:20132 )

• megakaryocytes exhibit an increase in size compared to in wild-type mice, a paucity of granules, hyperlobulation of the nucleus, and striking emperipolesis

increased megakaryocyte cell number ( J:20132 )

• 2- to 4-fold increase of megakaryocytes in the spleen and bone marrow compared to in wild-type mice

decreased hemoglobin content ( J:20132 )

• mice exhibit decreased hemoglobin content that cannot be explained by blood loss or iron deficiency

microcytosis ( J:20132 )

• mice exhibit microcytosis that cannot be explained by blood loss or iron deficiency

absent platelets ( J:20132 )

abnormal hematopoietic system physiology ( J:20132 )

• despite normal thrombopoeitin action, late megakaryocyte maturation is blocked

enhanced megakaryocyte emperipolesis ( J:20132 )

• megakaryocytes exhibit striking emperipolesis (nonphagocytic inclusion of other blood cells within the cytoplasm)

cardiovascular system

internal hemorrhage ( J:20132 )

• after birth mice exhibit internal hemorrhages in the peritoneal cavity and the wall of the urinary bladder

• a majority of mice die during the neonatal period due to hemorrhage

growth/size/body

decreased body size ( J:20132 )

integument

pallor ( J:20132 )

• after birth