Patent · US Expired

Receptor-deficient mice and cell lines derived therefrom, and uses thereof

US6278040A · kind A · utility

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Key dates

Filing dateFeb 19, 1997
Grant dateAug 21, 2001
Priority date
Expiry dateFeb 19, 2017

Classification

  • Technology area (CPC A)Human Necessities
  • CPC primaryA01K2267/0375
  • WIPO fieldPharmaceuticals
  • WIPO sectorChemistry

Abstract

In accordance with the present invention, there are provided targeted loss of function mutant mice which express less than endogenous levels of at least one member of the steroid/thyroid superfamily of receptors in at least one specific tissue type. For example, mutations in the RXR.alpha. gene in mouse germlines are lethal in the embryonic stage between E13.5 and E16.5 when bred to homozygosity. The major defect responsible for this lethal effect is hypoplastic development of the ventricular chambers of the heart, which is manifest as a grossly thinned ventricular wall with concurrent defects in ventricular septation. This phenotype is identical to a subset of the effects of embryonic vitamin A deficiency, and therefore establishes RXR.alpha. as a genetic component of the vitamin A signaling pathway in cardiac morphogenesis. The cardiac outflow tracts and associated vessels, which are populated by derivatives of the neural crest and which are also sensitive to vitamin A deficiency, are normal in homozygous embryos, indicating the genetic independence of ventricular chamber development. Hepatic differentiation was dramatically but transiently retarded, yet is histologically and mor…

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