C9orf72^em1Fehu
Endonuclease-mediated Allele Detail

Summary

• Symbol: C9orf72^em1Fehu
• Name: C9orf72, member of C9orf72-SMCR8 complex; endonuclease-mediated mutation 1, Fenghua Hu
• MGI ID: MGI:7448531
• Gene: C9orf72 Location: Chr4:35191285-35226153 bp, - strand Genetic Position: Chr4, 17.13 cM
• Alliance: C9orf72^em1Fehu page

Mutation origin

• Strain of Origin: (C57BL/6J x FVB/N)F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to target close to the start codon of isoform I and III. The founder contains a 1 nucleotide deletion at the beginning of the open reading frame resulting in a frame shift at residue 33 that produces a stop codon at amino acid 40. Western blot confirms the loss of isoform I. It is not clear if isoforms II and III are affected. (J:240578)

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: 44 strains or lines available

References

• Original: J:240578 Sullivan PM, et al., The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Acta Neuropathol Commun. 2016 May 18;4(1):51
• All: 2 reference(s)