Exon 19 was replaced with a floxed neomycin resistance cassette and a modified exon 19 in which an T to A point mutation results in the amino acid substitution of alanine for serine at position 474 (S4742A). Cre-mediated recombination removed the selection cassette. (J:225358)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count