Phenotypes associated with this allele

• Allele Symbol: Samd8^tm1Jia
• Allele Name: targeted mutation 1, Xian-Cheng Jiang
• Allele ID: MGI:5749225
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Samd8^tm1Jia/Samd8^tm1Jia	involves: 129S6/SvEvTac * C57BL/6J	MGI:5906802
cx2	Samd8^tm1Jia/Samd8^tm1Jia Sgms2^tm1Jia/Sgms2^tm1Jia	involves: 129S6/SvEvTac * C57BL/6J	MGI:5906805

Genotype
MGI:5906802

hm1

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

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:220024 )

N • mice exhibit normal plasma cholesterol, phospholipid and triglyceride levels

N • mice exhibit normal hepatic and macrophage levels of ceramide phosphoethanolamine and other sphingolipids

abnormal enzyme/coenzyme level ( J:220024 )

• decreased ceramide phosphoethanolamine synthase activity in the liver, macrophage and kidney

• however, serum ceramide phosphoethanolamine levels are normal

immune system

immune system phenotype ( J:220024 )

N • mice exhibit normal spleen histology

liver/biliary system

liver/biliary system phenotype ( J:220024 )

N • mice exhibit normal liver histology

renal/urinary system

renal/urinary system phenotype ( J:220024 )

N • mice exhibit normal kidney histology

Genotype
MGI:5906805

cx2

• 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