Extended Data Fig. 1: C9orf72 knock-in strategy and confirmation. | Nature Neuroscience

Extended Data Fig. 1: C9orf72 knock-in strategy and confirmation.

From: PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

Extended Data Fig. 1

(a) Design for CRISPR assisted C9orf72 gene targeting. The sgRNA for CRISPR/Cas9 is indicated by the teal bar. (b) Mapping of targeted locus amplification reads across the mouse genome. The chromosomes are indicated on the y-axis, the chromosomal position on the x-axis. (c) Targeted locus amplification sequence coverage across the knock-in sequence. The whole knock-in sequence has good coverage except for the blue underlined backbone sequences as expected from a correct targeting event as the backbone is not included. A coverage gap is present at the location of the 400 DPRs, and is underlined by the orange bar. Y-axis is limited to 100x. (d) Targeted locus amplification sequence coverage across the knock-in integration locus. The red arrow points toward the knock-in integration site. Y-axis is limited to 250x. (e) Repeat-length PCR of (GR)400 genomic DNA to establish repeat length and stability over five generations. All (GR)400 and (PR)400 mice in the study generated were genotyped for repeat length and showed the correct size.

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