The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men

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Jonathan M L., Edward J M., Trenton R S., Aydin Son Y., Michael M., Bradley K Y.

DEVELOPMENTAL DYNAMICS, cilt.237, sa.8, ss.1960-1971, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 237 Sayı: 8
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1002/dvdy.21515
  • Dergi Adı: DEVELOPMENTAL DYNAMICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1960-1971
  • Anahtar Kelimeler: cilia, ciliopathies, hair follicle, skin, IFT88, INTRAFLAGELLAR TRANSPORT PROTEIN, PLANAR CELL POLARITY, DISEASE GENE TG737, PRIMARY CILIA, SONIC HEDGEHOG, SENSENBRENNER-SYNDROME, JOUBERT-SYNDROME, CHOROID-PLEXUS, DISRUPTION, GROWTH
  • Orta Doğu Teknik Üniversitesi Adresli: Hayır

Özet

The Oak Ridge Polycystic Kidney (ORPK) mouse was described nearly 14 years ago as a model for human recessive polycystic kidney disease. The ORPK mouse arose through integration of a transgene into an intron of the Ift88 gene resulting in a hypomorphic allele (Ift88(Tg737Rpw)). The Ift88(Tg737Rp omega) mutation impairs intraflagellar transport (IFT), a process required for assembly of motile and immotile cilia. Historically, the primary immotile cilium was thought to have minimal importance for human health; however, a rapidly expanding number of human disorders have now been attributed to ciliary defects. Importantly, many of these phenotypes are present and can be analyzed using the ORPK mouse. In this review, we highlight the research conducted using the OPRK mouse and the phenotypes shared with human cilia disorders. Furthermore, we describe an additional follicular dysplasia phenotype in the ORPK mouse, which alongside the ectodermal dysplasias seen in human Ellis-van Creveld and Sensenbrenner's syndromes, suggests an unappreciated role for primary cilia in the skin and hair follicle.