A floxed neo cassette was inserted upstream of exon 13 and exon 13 was replaced with a modified exon containing a CGG to TGG (R420W) mutation. Cre mediated recombination removed the neo cassette. (J:228787)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count