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. 2021 Jun 18;14(6):dmm048901. doi: 10.1242/dmm.048901

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© 2021. Published by The Company of Biologists Ltd

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed.

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Fig. 5. — Neuromuscular spine deformity. (A) Manhattan plot showing statistical significance of the Clcn1^V292A allele following automated meiotic mapping of ENU-induced alleles with a recessive spine deformity phenotype. (B) Representative radiographs of 2-month-old male mice heterozygous for the ENU allele (Clcn1^+/^V292A) or homozygous for the ENU allele (Clcn1^V292A/V292A). Arrows indicate the location of the deformity. (C) Representative radiographs of 5-month-old male CRISPR-engineered mice heterozygous for the p.(Phe337GlyfsTer4) mutation (Clcn1^+/ko) or homozygous for the mutation (Clcn1^ko/ko). Arrows indicate the location of the deformity. (D) Manhattan plot showing statistical significance of the Large1^Q359X allele following automated meiotic mapping of ENU-induced alleles with a recessive spine deformity phenotype. (E) Representative radiographs of 4-month-old male mice heterozygous for the ENU allele (Large1^+/^Q359X) or homozygous for the allele (Large1^Q359X/Q359X). Arrows indicate the location of the deformity. Scale bars: 1 cm.