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Phenotypes Associated with This Genotype
Genotype
MGI:5013635
Allelic
Composition
Cers1fln/Cers1fln
Genetic
Background
NOD.Cg-Cers1fln/Sz
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cers1fln mutation (0 available); any Cers1 mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Progressive cerebellar Purkinje cell degeneration and abnormalities of Purkinje dendritic arbors in Cers1fln/Cers1fln mice

mortality/aging
N
• despite ataxia and weight loss, mice exhibit normal lifespan

nervous system
• at P12, Purkinje cell dendritic arbors are shorter than in wild-type mice
• at P17, reduced arbor size is more pronounced than earlier with higher order branch complexity than in wild-type mice
• however, Purkinje cells are normal until 3 weeks of age
• progressive
• at 4 months of age

behavior/neurological
• severe cerebellar ataxia beginning at 3 weeks of age
• beginning at P7

growth/size/body
• beginning at P7
• in adult mice

homeostasis/metabolism
• brain microsomes exhibit reduced C18 fatty acyl-CoA activity compared with wild-type microsomes
• the amount of total ceramide in the brain is reduced compared to in wild-type brains
• the amount of C14 ceramide in the brain is increased compared to in wild-type mice
• the amounts of C18 and C18:1 sphingomyelin in the brain are decreased compared to in wild-type mice
• the amounts of C14 and C16 dihydroceramide are increased while the amount of C18:1 dihydroceramide is decreased compared to in wild-type mice
• brains exhibit a 2- to 4-fold reduction in sphingosine and a more than 10-fold increase in dihydrosphingosine compared with wild-type mice

pigmentation
• in the brain


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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory