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Stem Cell Related Patent Number US5912173
| Title: | Transgenic murine model for XSCID | | Inventors: | Leonard, Warren J.; Bethesda, MD, USA | | Summary: | This invention provides an isolated nucleic acid sequence encoding murine IL-2R gamma, methods and uses thereof. Described herein is a vector for producing a mutated murine IL-2R? nucleic acid, such that the vector comprising an IL-2R? construct is capable of homologous recombination with X-chromosomal DNA in murine cells transfected by the vector, thereby causing an IL-2R? deficiency. Therapeutic applications are directed toward the diagnosis of X-linked severe combined immunodeficiency (XSCID) via a process of detecting the mutated IL-2R? gene. Further disclosed are properties associated with transgenic nonhuman mammals containing the mutated gene. | | Abstract: | The present invention provides an isolated nucleic acid sequence encoding murine IL-2R.gamma.. The present invention also provides a vector comprising a mutated IL-2R.gamma. nucleic acid which is capable of homologous recombination in at least some cells to which the vector is introduced. The present invention also provides an embryonic stem cell comprising a mutated IL-2R.gamma. nucleic acid integrated into the cell by homologous recombination following transfection with the vector above. The present invention further provides a blastocyst cell comprising the embryonic stem cell above. In addition, the present invention provides a transgenic animal comprising a mutated IL-2R.gamma. gene. In particular, the animal is a non-human mammal whose germ and somatic cells contain a mutated IL-2R.gamma. gene sequence introduced into said mammal, or an ancestor thereof, at an embryonic stage. The present invention also provides a method of producing a non-human mammal with XSCID which comprises introducing into at least some cells of the recipient animal a mutated IL-2R.gamma. gene. Lastly, the present invention provides a non-human animal produced by the method above, and progeny thereof, wherein at least some cells retain a mutated IL-2R.gamma. gene. | | US Patent Website: | Click Here for Full Text of Patent | | Title Number: | US5912173 | | Application Number: | US1995000424224 | | Date Filed: | 19/04/1995 | | Date Published: | 15/06/1999 | | Assignee: | The USA as represented by the Department of Health and Human Services, Washington, DC, USA |
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