Phenotypes associated with this allele

• Allele Symbol: Sptlc2^tm1Jia
• Allele Name: targeted mutation 1, Xian-cheng Jiang
• Allele ID: MGI:3815117
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sptlc2^tm1Jia/Sptlc2^tm1Jia	B6.Cg-Sptlc2^tm1Jia	MGI:3815130
ht2	Sptlc2^tm1Jia/Sptlc2^+	B6.Cg-Sptlc2^tm1Jia	MGI:3815131

Genotype
MGI:3815130

hm1

• Allelic Composition: Sptlc2^tm1Jia/Sptlc2^tm1Jia
• Genetic Background: B6.Cg-Sptlc2^tm1Jia

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

mortality/aging

prenatal lethality, complete penetrance ( J:140627 )

• homozygotes die prior to E15-20

Genotype
MGI:3815131

ht2

• Allelic Composition: Sptlc2^tm1Jia/Sptlc2⁺
• Genetic Background: B6.Cg-Sptlc2^tm1Jia

homeostasis/metabolism

abnormal lipid level ( J:140627 )

• mice have decreased liver levels of sphingolipids including derivatives of ceramide and sphingosine

• however, mice have normal liver levels sphingosine-1-phosphate

abnormal circulating lipid level ( J:140627 )

• mice have decreased plasma levels of sphingolipids including ceramide and sphingosine-1-phosphate derivatives

• lysosphingomyelin is especially affected with a 16.4 fold reduction in the plasma level

• levels of sphingomyelin derivatives are normal