Sacs^{tm1(NCOM)Mfgc}
Targeted Allele Detail

Summary

• Symbol: Sacs^{tm1(NCOM)Mfgc}
• Name: sacsin; targeted mutation 1, Mammalian Functional Genomics Centre
• MGI ID: MGI:5702397
• Gene: Sacs Location: Chr14:61375906-61478144 bp, + strand Genetic Position: Chr14, 32.13 cM
• Alliance: Sacs^{tm1(NCOM)Mfgc} page
• IMPC: Sacs gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:182034
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified
• Project Collection: NorCOMM

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: An IRES, beta-gal cassette replaced most of exon 10. Western blot analysis confirmed the absence of protein expression in the brain. (J:182034)

Disease models

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 Sacs Mutation: 156 strains or lines available

References

• Original: J:182034 Girard M, et al., Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1661-6
• All: 3 reference(s)