9d ago
A patient-derived LMX1B variant causes tissue-specific manifestations of nail-patella syndrome in mice
Amano · T. · Yoshida · K. · Sultana · F. · Imura · C. · +16 more
Abstract
Nail-patella syndrome (NPS) is a multisystem disorder caused by pathogenic variants in LMX1B and is characterized by dysplasia of the nails and patellae as well as extraskeletal complications such as progressive nephropathy and glaucoma. We generated a CRISPR/Cas9 knock-in mouse carrying the R252Q substitution, corresponding to a human LMX1B variant associated with renal-predominant disease. Phenotypic analysis revealed that homozygous mice were viable, but they displayed marked growth retardati
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