将人类的R684H、F681Y、G676R和KM670/671NL(瑞典变体)基因突变引入第16号外显子,通过靶向载体实现。在第16个内含子中,放置了反向转录方向的FRT引导的PGK-neomycin cassette和F3引导的PGK-hygromycin cassette。同时,E693G(Artic)和T714I(Austrian)的突变被引入第17号外显子。Flpe介导的重组去除了FRT引导的neomycin和hygromycin cassette。来源:(J:299724)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count