Phenotypes Associated with This Genotype

Genotype
MGI:6116660

• Allelic Composition: Acer2^em1Mvw/Acer2^em1Mvw
• Genetic Background: C57BL/6J-Acer2^em1Mvw/MvwJ

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

hematopoietic system

hematopoietic system phenotype ( J:256650 )

N • homozygotes do not have lymphopenia, embryonic hemorrhage, or increased lethality

homeostasis/metabolism

abnormal sphingolipid level ( J:256650 )

• although the levels of ceramides, sphingomyelins, and monohexosylceramides are not changed in whole blood, the levels of sphingosine, sphingosine-1-phosphate, dihydrosphingosine, and dihydrosphingosine-1-phosphate are signficantly decreased in whole blood, plasma, erythrocytes, and platelets, and the levels of ceramides and dihydroceramides are significantly decreased in platelets, showing this ceramidase to be key in the generation of sphingosine-1-phosphate and dihydrosphingosine-1-phosphate, and bone marrow transplantation studies show that ACER2 activity in hematopoietic cells is necessary for normal blood dihydrosphingosine and dihydrosphingosine-1-phosphate

• in lung the levels of sphingomyosine-1-phosphate and dihydrosphingosine-1-phosphate are significantly reduced, in the lymph nodes and spleen the levels of sphingosine are decreased, ceramides are slightly increased but dihydroceramides are normal, but no sphingolipid changes are found in the thymus