All Phenotypes Samd8<tm1.1Kwi> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Samd8^tm1.1Kwi
targeted mutation 1.1, Klaus Willecke
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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Samd8^tm1.1Kwi mutation (1 available); any Samd8 mutation (31 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Samd8^tm1.1Kwi mutation (1 available); any Samd8 mutation (31 available)
Sgms2^tm1Jia mutation (0 available); any Sgms2 mutation (23 available)

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

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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