The Japanese Biochemical Society

[2P-320] Regional fluctuation in the functional consequence of LINE-1 insertion in the Mitf gene: The black spotting phenotype arisen from the Mitfmi-bw mouse lacking melanocytes

Kazuhisa Takeda1, Hiroki Hozumi1, Koji Ohba1,2, Hiroaki Yamamoto3, Shigeki Shibahara1 (1.Dept. of Mol. Biol. and Applied Physiol., Tohoku Univ. Sch. of medicine, 2.Dept. of Endocrinol. and Applied Medical Science, Tohoku Univ. Sch. of Medicine, 3.Faculty of Biosci., Nagahama Inst. of Bio-Science and Technol.)

The 89th Annual Meeting of JBS |Mon. Sep 26, 2016 2:45 PM - 3:45 PM

[2P-321(2T07-07)] Heterozygous Loss-of-function Mutations in Angiopoietin Receptor TEK Cause Primary Congenital Glaucoma

Tomokazu Souma1, Stuart Tompson2, Benjamin Thomson1, Jamie Craig3, Simon John4, Janey Wiggs5, Francesca Pasutto6, Jing Jin1, Terri Young2, Susan Quaggin1 (1.Feinberg Cardiovascular Research Institute, Division of Nephrology, Northwestern University, USA., 2.Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, USA., 3.Department of Ophthalmology, Flinders University, Australia, 4.The Howard Hughes Medical Institute, and the Jackson Laboratory, USA., 5.Department of Ophthalmology, Harvard Medical School, USA., 6.Institute of Human Genetics, Friedrich-Alexander-University, Germany.)

The 89th Annual Meeting of JBS |Mon. Sep 26, 2016 1:30 PM - 2:45 PM