Exon 9 was replaced with a floxed splice acceptor/neomycin resistance cassette and a modified exon 9 in which a G to A mutation results in the amino acid substitution of lysine for glutamic acid at position 545 (E545K). Cre-mediated recombination removed the selection cassette. (J:222915)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count