C9orf72^em1Eggn
Endonuclease-mediated Allele Detail

Summary

• Symbol: C9orf72^em1Eggn
• Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Kevin Eggan
• MGI ID: MGI:6118174
• Synonyms: C9orf72 del
• Gene: C9orf72 Location: Chr4:35191285-35226153 bp, - strand Genetic Position: Chr4, 17.13 cM
• Alliance: C9orf72^em1Eggn page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 mediated mutagenesis created a 38-nucleotide deletion in exon 4 predicted to generate a stop codon after 183 amino acids. (J:240357)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 36 strains or lines available

References

• Original: J:240357 Burberry A, et al., Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci Transl Med. 2016 Jul 13;8(347):347ra93
• All: 1 reference(s)