Phenotypes associated with this allele

• Allele Symbol: Sgms2^tm1Jia
• Allele Name: targeted mutation 1, Xian-Cheng Jiang
• Allele ID: MGI:4818459
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sgms2^tm1Jia/Sgms2^tm1Jia	involves: 129 * C57BL/6	MGI:4818469
hm2	Sgms2^tm1Jia/Sgms2^tm1Jia	Not Specified	MGI:5906804
cx3	Samd8^tm1.1Kwi/Samd8^tm1.1Kwi Sgms2^tm1Jia/Sgms2^tm1Jia	involves: 129P2/OlaHsd	MGI:5906913
cx4	Samd8^tm2.2Kwi/Samd8^tm2.2Kwi Sgms2^tm1Jia/Sgms2^tm1Jia	involves: 129P2/OlaHsd	MGI:5906914
cx5	Samd8^tm1Jia/Samd8^tm1Jia Sgms2^tm1Jia/Sgms2^tm1Jia	involves: 129S6/SvEvTac * C57BL/6J	MGI:5906805

Genotype
MGI:4818469

hm1

• Allelic Composition: Sgms2^tm1Jia/Sgms2^tm1Jia
• Genetic Background: involves: 129 * C57BL/6

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

homeostasis/metabolism

abnormal circulating protein level ( J:162192 )

• plasma ApoE levels are increased in mice fed a high-fat diet compared to in similarly treated wild-type mice

abnormal lipid level ( J:162192 , J:162226 )

• plasma levels of ceramide, sphingosine, and sphingosine-1-phosphate are increased compared to in wild-type mice (J:162192)

• sphingosine-1-phosphate levels in the liver are decreased compared to in wild-type mice (J:162192)

• however, total cholesterol, phospholipids and triglyceride levels are normal (J:162192)

• the amount of diacyglycerol in macrophages is decreased while the amount of ceramide in macrophages is increased compared to in wild-type cells (J:162226)

• however, the level of phosphatidylcholine is normal (J:162226)

abnormal sphingomyelin level ( J:162192 )

• plasma levels of sphingomyelin (SM) and HDL-SM are decreased compared to in wild-type mice

• liver SM levels are decreased compared to in wild-type mice

• mice fed a high cholesterol diet exhibit a decrease in plasma SM (HDL and non-HDL) levels compared with similarly treated wild-type mice

hematopoietic system

abnormal macrophage morphology ( J:162226 )

• the amount of diacyglycerol in macrophages is decreased while the amount of ceramide in macrophages is increased compared to in wild-type cells

• however, the level of phosphatidylcholine is normal

hemolysis ( J:162192 )

• red blood cells are less sensitive to lysenin-mediated cytolysis compared with wild-type cells

abnormal macrophage physiology ( J:162192 , J:162226 )

• macrophages are less sensitive to lysenin-mediated cytolysis compared with wild-type cells (J:162192)

• macrophages are less sensitive to lysenin-mediated cytolysis compared with wild-type cells (J:162226)

immune system

abnormal macrophage morphology ( J:162226 )

• the amount of diacyglycerol in macrophages is decreased while the amount of ceramide in macrophages is increased compared to in wild-type cells

• however, the level of phosphatidylcholine is normal

abnormal macrophage physiology ( J:162192 , J:162226 )

• macrophages are less sensitive to lysenin-mediated cytolysis compared with wild-type cells (J:162192)

• macrophages are less sensitive to lysenin-mediated cytolysis compared with wild-type cells (J:162226)

liver/biliary system

abnormal hepatocyte physiology ( J:162192 )

• hepatocytes are less sensitive to lysenin-mediated cytolysis than wild-type cells

cellular

abnormal cell physiology ( J:162192 )

• embryo fibroblasts are less sensitive to lysenin-mediated cytolysis compared with wild-type cells

Genotype
MGI:5906804

hm2

• Allelic Composition: Sgms2^tm1Jia/Sgms2^tm1Jia
• Genetic Background: Not Specified

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:228568 )

N • mice exhibit normal ceramide phosphoethanolamine brain levels

abnormal sphingomyelin level ( J:228568 )

• minor reduction in sphingomyelin in the brain

• reduced sphingomyelin in the kidney

abnormal ceramide level ( J:220024 , J:228568 )

• low serum ceramide phosphoethanolamine levels (J:220024)

• diminished nitrobenzoxadiazole sphingomyelin formation in brain and liver microsomes (J:228568)

• reduced nitrobenzoxadiazole ceramide phosphoethanolamine formation in liver microsomes (J:228568)

• however, mice exhibit normal production of nitrobenzoxadiazole ceramide phosphoethanolamine formation in brain microsomes (J:228568)

Genotype
MGI:5906913

cx3

• Allelic Composition: Samd8^tm1.1Kwi/Samd8^tm1.1Kwi; Sgms2^tm1Jia/Sgms2^tm1Jia
• Genetic Background: involves: 129P2/OlaHsd

homeostasis/metabolism

abnormal sphingomyelin level ( J:228568 )

• reduced sphingomyelin in the liver

abnormal ceramide level ( J:228568 )

• abolished ceramide phosphoethanolamine (CPE) formation in brain and liver microsomes

• reduced short-chained CPE species, minor reduction of long-chained CPE in the forebrain and cerebellum

• abolished liver-associated ceramide phosphoethanolamine synthase activity

• minor decrease in the short-chain CPE species in small intestine

• however, mice exhibit normal CPE levels in the heart, muscle and liver

abnormal enzyme/coenzyme activity ( J:228568 )

• abolished liver-associated ceramide phosphoethanolamine synthase activity

Genotype
MGI:5906914

cx4

• Allelic Composition: Samd8^tm2.2Kwi/Samd8^tm2.2Kwi; Sgms2^tm1Jia/Sgms2^tm1Jia
• Genetic Background: involves: 129P2/OlaHsd

homeostasis/metabolism

abnormal ceramide level ( J:228568 )

• abolished ceramide phosphoethanolamine formation in brain and liver microsomes

• minor increase in ceramide and hexosylceramide levels in the kidney, spleen, lung, and heart

• however, mice exhibit normal ceramide phosphoethanolamine levels in the liver

Genotype
MGI:5906805

cx5

• Allelic Composition: Samd8^tm1Jia/Samd8^tm1Jia; Sgms2^tm1Jia/Sgms2^tm1Jia
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

homeostasis/metabolism

abnormal sphingomyelin level ( J:220024 )

• reduced in the plasma, liver and macrophages

abnormal ceramide level ( J:220024 )

• low hepatic and serum ceramide phosphoethanolamine levels but increased ceramide levels

• however, macrophage levels are normal