Phenotypes associated with this allele

• Allele Symbol: Samd8^tm1.1Kwi
• Allele Name: targeted mutation 1.1, Klaus Willecke
• Allele ID: MGI:5707954
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Samd8^tm1.1Kwi/Samd8^tm1.1Kwi	involves: 129P2/OlaHsd	MGI:5906911
cx2	Samd8^tm1.1Kwi/Samd8^tm1.1Kwi Sgms2^tm1Jia/Sgms2^tm1Jia	involves: 129P2/OlaHsd	MGI:5906913

Genotype
MGI:5906911

hm1

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

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:228568 )

N • mice exhibit normal liver transaminases and creatine phosphokinase serum activities

abnormal ceramide level ( J:228568 )

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

• minor decrease in the short-chain CPE species in the testis, kidney, spleen and lung

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

• however, mice exhibit normal ceramide and hexosylceramide levels

liver/biliary system

liver/biliary system phenotype ( J:228568 )

N • normal liver cells

nervous system

nervous system phenotype ( J:228568 )

N • normal brain cells

Genotype
MGI:5906913

cx2

• 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