Cers1^to
Spontaneous Allele Detail

Summary

• Symbol: Cers1^to
• Name: ceramide synthase 1; toppler
• MGI ID: MGI:2653507
• Synonyms: to
• Gene: Cers1 Location: Chr8:70768425-70784238 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Cers1^to page

Mutation origin

• Strain of Origin: FVB/N-Tg(TK-neo)#Doe

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A spontaneous C to A substitution results in an alanine to aspartic acid substitution at position 266 (p.A266D). (J:172719)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cers1 Mutation: 20 strains or lines available

References

• Original: J:91243 Duchala CS, et al., The toppler mouse: A novel mutant exhibiting loss of Purkinje cells. J Comp Neurol. 2004 Aug 16;476(2):113-29
• All: 3 reference(s)