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For MRI quantification, the cartilage defect was scored from 0 to 5. Second-look arthroscopy was performed for four patients and biopsy specimens were evaluated histologically.
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Suppression of the fat-6;fat-7 defects was scored by examining lipid deposition using Nile Red staining and monitoring growth rate and brood size of fat-6;fat-7 mutants.
Pleural affection and perfusion defects are scored on MRI.
Loss of commissures and ectopic crossovers were assessed as previously described [37], while AEP defects were scored based on the presence of a BP102 stained axon beyond the CNS/PNS boundary.
Neuroanatomical defects were scored in L4 or young adults.
Mitochondrial defects were scored as widespread gaps and/or fragmentation of mitochondrial::GFP.
Adhesome defects were scored as gaps, disorganization, or fraying/balling of uncoordinated (UNC -95::GFP (12).
DTC migration defects were scored in adult animals using differential interference contrast microscopy.
Femoral head cartilage volume was measured and femoral head cartilage defects were scored in the different hip regions.
Wing position defects were scored at day 6 of adulthood, when 90% of individuals show defects in the absence of the drug (Fig 2A).
Vangl2 protein localization defects were scored as the relative numbers of cells with the anterior Vangl2, based on two to five independent experiments.
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