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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice

Fig. 1

Generation of Nubpl104P+/- knockout Nubpl -/- mice indicated in figure as Nubpl -/- and Nubpl p. L104P knock-in mice. A Schematic showing Nubpltm1aknockout allele. B Nubpl homozygous knockout mice were sub-viable at E9.5. C Nubpl p. L104P CRISPR design. Additional silent mutations added to inhibit Cas9 cutting of p. L104P mutation. D Sequences of Nubpl104P+/- heterozygous mouse for the p. L104P (TT>CC) variant. Multiple silent variants were introduced to reduce recurrent CRISPR/Cas9 targeting. E Nubpl L104P/L104P homozygous (designated as NUBPL LP/LP) mice were embryonically lethal

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