A 1.1-kb DNA fragment containing exon 39 and exon 40 was amplified from BAC clone 144L21 and the E1841K mutation was introduced into exon 39 by PCR. A floxed neomycin selection cassette was inserted upstream of exon 39 but later excised by cre expression. (J:175367)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count