Sacs^tm2Bebr
Targeted Allele Detail

Summary

• Symbol: Sacs^tm2Bebr
• Name: sacsin; targeted mutation 2, Bernard Brais
• MGI ID: MGI:6316982
• Gene: Sacs Location: Chr14:61375906-61478144 bp, + strand Genetic Position: Chr14, 32.13 cM
• Alliance: Sacs^tm2Bebr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:217753
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A neomycin cassette replaced most of exon 10 (nucleotide sequence 63906-68916 - Mouse Genome Informatics sequence: OTTMUSG00000029987). Western blot analysis confirmed the absence of protein expression in the cerebellum. (J:217753)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 Sacs Mutation: 156 strains or lines available

References

• Original: J:217753 Lariviere R, et al., Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. Hum Mol Genet. 2015 Feb 1;24(3):727-39
• All: 6 reference(s)