C9orf72^tm1Eggn
Targeted Allele Detail

Summary

• Symbol: C9orf72^tm1Eggn
• Name: C9orf72, member of C9orf72-SMCR8 complex; targeted mutation 1, Kevin Eggan
• MGI ID: MGI:5883587
• Gene: C9orf72 Location: Chr4:35191285-35226153 bp, - strand Genetic Position: Chr4, 17.13 cM
• Alliance: C9orf72^tm1Eggn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:207696
• 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: Target vector was designed in the National Institutes of Health Knockout Mouse (KOMP) project. A lacZ gene and frt-flanked neomycin selection cassette replaced exons 2 through 6. (J:207696)

Disease models

Expression

In Structures Affected by this Mutation:

5 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:207696 Suzuki N, et al., The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nat Neurosci. 2013 Dec;16(12):1725-7
• All: 3 reference(s)