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Functional analysis of gene LRRC8 causing agammaglobulinemia

Research Project

Project/Area Number 17591088
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionOsaka University

Principal Investigator

OHTA Hideaki  Osaka University, Graduate School of Medicine, Assistant professor, 医学系研究科, 講師 (60322187)

Co-Investigator(Kenkyū-buntansha) HASHII Yoshiko  Osaka University, Graduate School of Medicine, Assistant, 医学系研究科, 助手 (60343258)
TOKIMASA Sadao  Osaka University, Graduate School of Medicine, Assistant, 医学系研究科, 助手 (80403187)
Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2006: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 2005: ¥2,700,000 (Direct Cost: ¥2,700,000)
Keywordsgene / biotechnology / immunology
Research Abstract

We previously isolated a novel gene, Leucine-rich repeat-containing 8 (LRRC8) which causes agammaglobulinemia in human. Transduction of mutated LRRC8 found in a patient into mouse hematopoietic cells lead to maturation block of B-cell progenitor at pro-B stage. In order to further elucidate the mechanism of congenital immunodeficiency, we tried making LRRC8-deficient mice. Targeting vector lacking the whole LRRC8 were made, and transfected into ES cells. Electroporation were performed twice: 64 samples at first time, 160 samples at second. Approximately 200 clones were picked up, and screened for positive clones. Positive clones were screened by Southern blot for right recombination, and one right clone was isolated. The ES clone (cell line) was injected into embryos to get germline chimeric mice, but birth of chmeric mice was unsuccessful.

Report

(3 results)
  • 2006 Annual Research Report   Final Research Report Summary
  • 2005 Annual Research Report

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Published: 2005-04-01   Modified: 2016-04-21  

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