Phenotypes associated with this allele

• Allele Symbol: Acer2^em1Mvw
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:5883755
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Acer2^em1Mvw/Acer2^em1Mvw	C57BL/6J-Acer2^em1Mvw/MvwJ	MGI:6116660
cx2	Acer2^em1Mvw/Acer2^em1Mvw Acer3^tm1Cmao/Acer3^tm1Cmao	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	MGI:6116898
cx3	Acer1^tm1(KOMP)Vlcg/Acer1^tm1(KOMP)Vlcg Acer2^em1Mvw/Acer2^em1Mvw	involves: C57BL/6J * C57BL/6NTac	MGI:6116840

Genotype
MGI:6116660

hm1

• 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

Genotype
MGI:6116898

cx2

• Allelic Composition: Acer2^em1Mvw/Acer2^em1Mvw; Acer3^tm1Cmao/Acer3^tm1Cmao
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac

normal phenotype

no abnormal phenotype detected ( J:256650 )

• during the first 3 months no overt abnormalities detected

Genotype
MGI:6116840

cx3

• Allelic Composition: Acer1^{tm1(KOMP)Vlcg}/Acer1^{tm1(KOMP)Vlcg}; Acer2^em1Mvw/Acer2^em1Mvw
• Genetic Background: involves: C57BL/6J * C57BL/6NTac
• Cell Lines: 18475A-H9

integument

alopecia ( J:252017 )

• double homozygotes have the same alopecia phenotype as that found in Acer1 null homozygotes