Acer3^tm1Cmao
Targeted Allele Detail

Summary

• Symbol: Acer3^tm1Cmao
• Name: alkaline ceramidase 3; targeted mutation 1, Cungui Mao
• MGI ID: MGI:6115367
• Gene: Acer3 Location: Chr7:97863015-97970415 bp, - strand Genetic Position: Chr7, 53.65 cM
• Alliance: Acer3^tm1Cmao page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228886
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: A targeting vector containing a neomycin resistance (neo) cassette was used to replace exon 8. Analysis by RT-PCR reveals that a truncated coding sequence is transcribed. Catalytic activity of ACER3 is markedly decreased, but not completely abolished. (J:228886)

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 Acer3 Mutation: 19 strains or lines available

References

• Original: J:228886 Wang K, et al., Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain. PLoS Genet. 2015 Oct;11(10):e1005591
• All: 4 reference(s)