title: Generation and characterization of a murine model of Bietti crystalline dystrophy.
abstract: OBJECTIVE
  Bietti crystalline dystrophy (BCD) is a rare, autosomal recessive, progressive, degenerative eye disease caused by mutations in the CYP4V2 gene, for which no treatments are currently available. Cyp4v3 is the murine ortholog to CYP4V2, and to better understand the molecular pathogenesis of this disease we have established a Cyp4v3-null mouse line.
  
  
  METHODS
  Cyp4v3(-/-) mice were generated by homologous recombination in embryonic stem cells. Ocular morphologic characteristics were evaluated via fundus imaging, plasma lipid profiling, and histologic analysis via Oil Red O reactivity, hematoxylin and eosin staining, and transmission electron microscopy.
  
  
  RESULTS
  The Cyp4v3(-/-) mouse recapitulates the characteristic features of corneoretinal crystal accumulation and systemic dyslipidemia seen in BCD. The Cyp4v3(-/-) mice behave normally and are viable and fertile when maintained under specific pathogen-free (SPF) housing conditions.
  
  
  CONCLUSIONS
  Cyp4v3(-/-) mice represent a promising preclinical model that may be used to better understand the disease etiology and to evaluate pharmacotherapies for this devastating condition.
authors.affiliation: Department of Pharmaceutics, University of Washington, Seattle, Washington, United States.
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Lockhart
authors.affiliation: Department of Medicinal Chemistry, University of Washington, Seattle, Washington, United States.
authors.forename: Mariko
authors.initials: M
authors.lastname: Nakano
authors.affiliation: Department of Medicinal Chemistry, University of Washington, Seattle, Washington, United States.
authors.forename: Allan E
authors.initials: AE
authors.lastname: Rettie
authors.affiliation: Department of Pharmaceutics, University of Washington, Seattle, Washington, United States.
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Kelly
mesh_terms: D000818:Animals; D015153:Blotting, Western; D003317:Corneal Dystrophies, Hereditary / Q000097:blood / Q000473:pathology*; D004195:Disease Models, Animal; D008401:Gas Chromatography-Mass Spectrometry; D008055:Lipids / Q000097:blood; D051379:Mice; D008810:Mice, Inbred C57BL; D012164:Retinal Diseases / Q000097:blood / Q000473:pathology*
chemical_list: D008055:Lipids
keywords: Bietti crystalline dystrophy; CYP4V2; preclinical model