Phenotypes associated with this allele

• Allele Symbol: Cers1^tm1.1Kwi
• Allele Name: targeted mutation 1.1, Klaus Willecke
• Allele ID: MGI:5475110
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cers1^tm1.1Kwi/Cers1^tm1.1Kwi	involves: 129P2/OlaHsd * C57BL/6	MGI:5475132

Genotype
MGI:5475132

hm1

• Allelic Composition: Cers1^tm1.1Kwi/Cers1^tm1.1Kwi
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Foliation defects and cerebellar neurodegeneration in Cers1^tm1.1Kwi/Cers1^tm1.1Kwi mice

nervous system

increased neuron apoptosis ( J:193419 )

• 6 times increase in post-migratory granule cells at P10

reduced cerebellar foliation ( J:193419 )

• absence of fissure separating folia VI and VII

Purkinje cell degeneration ( J:193419 )

• beginning at P20 with the majority of cells disappearing by the sixth month

decreased Purkinje cell number ( J:193419 )

• beginning at P20 with the majority of cells disappearing by the sixth month

cerebellum vermis hypoplasia ( J:193419 )

• at 6 weeks

cerebellum atrophy ( J:193419 )

• atrophy between 6 and 12 months

astrocytosis ( J:193419 )

• in cerebellar white matter but not its neuronal strata

behavior/neurological

abnormal motor learning ( J:193419 )

• mice exhibit impaired motor coordination learning and long term memory on a rotarod compared with wild-type mice

• mice exhibit impaired motor learning on a vertical pole compared with wild-type mice

abnormal spatial working memory ( J:193419 )

• in a Y-maze, mice exhibit reduced numbers of triplets, total arm entries and alternation ratios indicating impaired spatial working memory compared with wild-type mice

abnormal anxiety-related response ( J:193419 )

• after three habituation trials, mice spend less time in the corners and more time in the center of an open field compared wild-type mice

abnormal response to novel object ( J:193419 )

• mice exhibit reduced novel object exploration compared with wild-type mice

decreased locomotor activity ( J:193419 )

• reduced distance and speed of travel in an open field

homeostasis/metabolism

abnormal lipid homeostasis ( J:193419 )

• mice exhibit reduced ceramide synthase activity towards C18 acyl-CoAs compared with wild-type mice

abnormal lipid level ( J:193419 )

• mice exhibit altered lipid levels in the brain compared with wild-type mice

cellular

increased neuron apoptosis ( J:193419 )

• 6 times increase in post-migratory granule cells at P10

pigmentation

lipofuscinosis ( J:193419 )

• in the sensory ganglion cells of the peripheral nervous system