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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Samd8tm2.2Kwi
targeted mutation 2.2, Klaus Willecke
MGI:5707965
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Samd8tm2.2Kwi/Samd8tm2.2Kwi involves: 129P2/OlaHsd MGI:5906912
cx2
 		Samd8tm2.2Kwi/Samd8tm2.2Kwi
Sgms2tm1Jia/Sgms2tm1Jia 		involves: 129P2/OlaHsd MGI:5906914


Genotype
MGI:5906912
hm1
Allelic
Composition		 Samd8tm2.2Kwi/Samd8tm2.2Kwi
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Samd8tm2.2Kwi mutation (0 available); any Samd8 mutation (31 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal ceramide level ( J:228568 )
• abolished nitrobenzoxadiazole ceramide phosphoethanolamine formation in brain microsomes
• however, formation of nitrobenzoxadiazole sphingomyelin and nitrobenzoxadiazole glucosylceramide in brain and liver microsomes is normal
• however, sphingomyelin levels in the brain are normal




Genotype
MGI:5906914
cx2
Allelic
Composition		 Samd8tm2.2Kwi/Samd8tm2.2Kwi
Sgms2tm1Jia/Sgms2tm1Jia
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Samd8tm2.2Kwi mutation (0 available); any Samd8 mutation (31 available)
Sgms2tm1Jia mutation (0 available); any Sgms2 mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal ceramide level ( J:228568 )
• abolished ceramide phosphoethanolamine formation in brain and liver microsomes
• minor increase in ceramide and hexosylceramide levels in the kidney, spleen, lung, and heart
• however, mice exhibit normal ceramide phosphoethanolamine levels in the liver




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory