Supplementary Materials

Supplementary Material for:

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

Aaron Burberry, Naoki Suzuki, Jin-Yuan Wang, Rob Moccia, Daniel A. Mordes, Morag H. Stewart, Satomi Suzuki-Uematsu, Sulagna Ghosh, Ajay Singh, Florian T. Merkle, Kathryn Koszka, Quan-Zhen Li, Leonard Zon, Derrick J. Rossi, Jennifer J. Trowbridge, Luigi D. Notarangelo, Kevin Eggan*

*Corresponding author. Email: eggan{at}

Published 13 July 2016, Sci. Transl. Med. 8, 347ra93 (2016)
DOI: 10.1126/scitranslmed.aaf6038

This PDF file includes:

  • Text
  • Fig. S1. Validation of C9orf72 loss-of-function allele.
  • Fig. S2. Analysis of spinal motor neurons.
  • Fig. S3. Motor cortex histology.
  • Fig. S4. Histology of thalamus, CA1, and cerebellum.
  • Fig. S5. GFAP expression in the central nervous system.
  • Fig. S6. Individual mouse weight curves after disease onset.
  • Fig. S7. Splenocyte-gating scheme.
  • Fig. S8. Bone marrow histology and cell counts.
  • Fig. S9. Analysis of B and T cells in cervical lymph node.
  • Fig. S10. Hematopoietic liver infiltrates occur in a subset of mutant animals.
  • Fig. S11. Analysis of cytokines and chemokines.
  • Fig. S12. Analysis of CD4+ CD25+ cells.
  • Fig. S13. Cellular and organismal phenotypes after bone marrow transplant.
  • Fig. S14. CRISPR/Cas9-targeted mutations in exon 4 of C9orf72.
  • Table S1. Analysis of autoantibodies in Neo-deleted mice.
  • Table S2. CRISPR/Cas9-induced mutations in C9orf72 exon 4.

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Other Supplementary Material for this manuscript includes the following:

  • Video 1 (.wmv format). End-stage −/− marrow donor to −/− recipient.
  • Video 2 (.wmv format). End-stage −/− marrow donor to WT recipient.
  • Video 3 (.wmv format). End-stage WT marrow donor to −/− recipient.

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