Cers1^fln
Spontaneous Allele Detail

Summary

• Symbol: Cers1^fln
• Name: ceramide synthase 1; flincher
• MGI ID: MGI:4867029
• Synonyms: fln
• Gene: Cers1 Location: Chr8:70768425-70784238 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Cers1^fln page

Progressive cerebellar Purkinje cell degeneration and abnormalities of Purkinje dendritic arbors in Cers1^fln/Cers1^fln mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: NOD.Cg-Prkdc^scid/Sz

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A spontaneous deletion of a single nucleotide in exon 5 results in a frame shift. Northern blot analysis confirmed the reduction in transcript expression along with decreased transcript expression of Gdf1. However, phenotype is rescued by expression of Lass1. (J:172719)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:172719 Zhao L, et al., A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation. PLoS Genet. 2011 May;7(5):e1002063
• All: 1 reference(s)