C9orf72^tm1Lagi
Targeted Allele Detail

Summary

• Symbol: C9orf72^tm1Lagi
• Name: C9orf72, member of C9orf72-SMCR8 complex; targeted mutation 1, Clotilde Lagier-Tourenne
• MGI ID: MGI:5779391
• Synonyms: C9orf72^-
• Gene: C9orf72 Location: Chr4:35191285-35226153 bp, - strand Genetic Position: Chr4, 17.13 cM
• Alliance: C9orf72^tm1Lagi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:232242
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting construct (FRT-lacZ-loxP-neo-FRT-loxP) with a lacZ reporter is used to replace exons 2-6. Immunoblot analysis confirmed that no protein was expressed in mutant mice. (J:232242)

Expression

In Structures Affected by this Mutation:

4 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 C9orf72 Mutation: 34 strains or lines available

References

• Original: J:232242 Jiang J, et al., Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron. 2016 May 4;90(3):535-50
• All: 5 reference(s)