Phenotypes associated with this allele

• Allele Symbol: Sptlc1^tm1Jia
• Allele Name: targeted mutation 1, Xian-cheng Jiang
• Allele ID: MGI:3815115
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sptlc1^tm1Jia/Sptlc1^tm1Jia	B6.Cg-Sptlc1^tm1Jia	MGI:3815128
ht2	Sptlc1^tm1Jia/Sptlc1^+	B6.Cg-Sptlc1^tm1Jia	MGI:3815129

Genotype
MGI:3815128

hm1

• Allelic Composition: Sptlc1^tm1Jia/Sptlc1^tm1Jia
• Genetic Background: B6.Cg-Sptlc1^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:3815129

ht2

• Allelic Composition: Sptlc1^tm1Jia/Sptlc1⁺
• Genetic Background: B6.Cg-Sptlc1^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

• however, levels of sphingomyelin derivatives are normal