Phenotypes associated with this allele

• Allele Symbol: Cers1^to
• Allele Name: toppler
• Allele ID: MGI:2653507
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cers1^to/Cers1^to	either: FVB/N or (involves: C3H * C57BL/6J * FVB/N)	MGI:3047558
hm2	Cers1^to/Cers1^to	FVB/N-Cers1^to	MGI:5013639
ht3	Cers1^fln/Cers1^to	involves: BALB/c * C57BL/Ka * FVB/N * NOD	MGI:5013636

Genotype
MGI:3047558

hm1

• Allelic Composition: Cers1^to/Cers1^to
• Genetic Background: either: FVB/N or (involves: C3H * C57BL/6J * FVB/N)

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

mortality/aging

premature death ( J:91243 )

• average life span is 8 - 10 months

behavior/neurological

tremors ( J:91243 )

• mutants develop mild tremors by P12 that worsen with age and occur when the mutant is stationary or moving

ataxia ( J:91243 )

• mutants develop an ataxic gait around 14 days of age

impaired balance ( J:91243 )

• mutants develop severely impaired balance and are unable to stand erect needing to use a tripod stance when feeding, grooming, or nursing

seizures ( J:91243 )

• older mutants develop mild petit mal-type seizures

growth/size/body

decreased body weight ( J:91243 )

• mutants are smaller compared to wild-type

nervous system

seizures ( J:91243 )

• older mutants develop mild petit mal-type seizures

decreased brain weight ( J:91243 )

• the brain is smaller compared to wild-type

Purkinje cell degeneration ( J:91243 )

• Purkinje cell loss occurs between P21 and P30 so that by 6 months of age most lobules of the cerebellum have only a few remaining Purkinje cells

abnormal Purkinje cell dendrite morphology ( J:91243 )

• the dendritic arbors of Purkinje cells are shorter and thicker compared to wild-type

small cerebellum ( J:91243 )

• the cerebellum is smaller compared to wild-type although this may be a result of overall decreased body size

gliosis ( J:91243 )

• astrocytes appear to be increased in older mutants

Genotype
MGI:5013639

hm2

• Allelic Composition: Cers1^to/Cers1^to
• Genetic Background: FVB/N-Cers1^to

nervous system

abnormal Purkinje cell dendrite morphology ( J:172719 )

• Purkinje cells exhibit higher order dendritic branching pattern abnormalities compared to in wild-type mice

Genotype
MGI:5013636

ht3

• Allelic Composition: Cers1^fln/Cers1^to
• Genetic Background: involves: BALB/c * C57BL/Ka * FVB/N * NOD

behavior/neurological

ataxia ( J:172719 )

• progressive beginning at 3 weeks of age

nervous system

Purkinje cell degeneration ( J:172719 )